Clubfoot Research Articles

Burden and pattern of congenital anomalies in newborns in a tertiary care hospital

Background: Anomaly is defined as a significant morphological or anatomic variation in the phenotype from the standard reference population. Objectives of current study was to investigate the incidence and pattern of congenital anomalies in the hospital delivered neonates, JNMCH, AMU, Aligarh.Methods: All the newborns delivered during the study period from October 2019 to November 2021 at JNMC, AMU, Aligarh were thoroughly examined and assessed for the presence of any congenital anomalies. Neonatal and maternal parameters were recorded in a predesigned proforma. Relevant investigations in the form of X-ray, ultrasonography and echocardiography were carried out in case of any suspected anomaly.Results: Out of the total 10932 neonates delivered during the study period, 197 babies had congenital malformations including 166 live births and 31 still births with an incidence of 1.8%. Musculoskeletal system was the most commonly system involved and congenital talipes equinovarus was the single most common malformation. Higher incidence of malformation was seen to be associated with still birth, prematurity, male gender and low birth weight babies.Conclusions: Regular antenatal checkups and anomaly scans can detect congenital malformations early. Pre conceptional counselling about maternal age at conception and birth order may help in preventing malformations associated with syndromes such as Down’s and Edward syndrome. Peri conceptional folate supplementation can prevent CNS malformations such as Neural tube defects significantly. Early diagnosis and treatment of maternal disease conditions like anemia, preeclampsia, hypertension and diabetes may affect occurrence of malformations.

Establishment of a control induced pluripotent stem cell line SMBCi018-A from a patient with congenital talipes equinovarus

Congenital talipes equinovarus (CTEV) is a congenital malformation affecting approximately 1/700-1/1000 of live borns. To date extensive epidemiological and biological studies have been operated to solve this issue, the most meaningful findings in clubfoot genetics involve PITX1 variants, which were associated with clubfoot phenotype in mice and humans. According to recent studies, the PITX1-TBX4 transcriptional pathway regulatory for early limb development has identified a key developmental pathway in clubfoot etiology by the common disease-rare hypothesis. However, the precise mechanisms causing this disease remain elusive. The pluripotent stem cell line SMBCi018-A will enable proper in vitro disease modeling of CTEV.

THE EFFECT OF SOCIOECONOMIC FACTORS ON THE FIRST VISIT OF A CLUBFOOT TO A HEALTH FACILITY

Background: Clubfoot, also known as CTEV (Congenital Talipes Equinovarus), is a foot deformity characterized by varus of the hindfoot, adductus of the forefoot (metatarsus), arched middle leg (cavus), and equinus. Untreated CTEV causes physical, social, psychological, and financial burdens that worsen the patient's condition, family, and community around the patient. Methods: This research is an observational analytic study in which data was collected in the city of Medan in December 2021 and the number of samples in this study was 38. Results: Patients with low paternal education had a 3.5 times risk of having a first visit time of > 1 year compared to those with high paternal education. Patients with low maternal education had a risk of 3,212 times having a first visit time of > 1 year compared to those with high maternal education. Patients with low paternal income are 3,261 times more likely to have a first visit time of > 1 year than those with high paternal income. Conclusion: Socioeconomic factors such as father's education, mother's education, and father's income were significantly related to the first visit of pediatric patients with clubfoot to health facilities.

Comparison Between the Outcome of the Standard and Accelerated Ponseti Casting Methods for Correcting Congenital Talipes Equinovarus Deformity

Background: Congenital talipes equinovarus (CTEV) is a prevalent congenital foot deformity. The Ponseti Method is a non-surgical treatment for clubfoot, which entails a sequence of casts and braces. The accelerated Ponseti method is a modified version of the standard Ponseti method, involving more frequent cast changes. Materials and Methods: A total of 60 patients with idiopathic CTEV under the age of one were carefully chosen and assigned to either group A (Standard) or group B (Accelerated). The Pirani score was used to evaluate each clubfoot before applying a cast. In group A, above-knee casting was performed once a week, while in group B, it was done twice a week Results: The study involved sixty children, accounting for a total of seventy feet. The results indicated a shorter treatment duration with the accelerated Ponseti method, while the occurrence of skin complications was comparable between the two methods. Conclusion: In conclusion, both the accelerated and standard Ponseti methods are equally effective in correcting clubfoot. The accelerated method offers the advantage of reducing the overall treatment duration and has clear benefits, while there is no notable difference in skin complications between the two methods.

Anteriorly Rotated Liver Anomaly in a Prosection Cadaver

The abdominal contents of a 85 year old male cadaver whose cause of death was decompensated congestive heart failure presented with an anteriorly rotated liver that had an enlarged right lobe and much reduced left lobe. The caudate lobe was also much reduced. The gall bladder was oriented vertically, facing the anterior abdominal wall. Other visceral abnormalities included the stomach, which was horizontal in orientation, with the greater curvature facing the anterior abdominal wall and greater omentum shifted to the left. The ascending colon continued beyond the hepatic flexure, and the transverse colon was located in the left upper quadrant. The descending colon was shifted towards the right and the sigmoid colon was enlarged, and it and the sigmoid mesocolon were located in the right lower quadrant. The vasculature of the viscera originated from the unpaired abdominal aortic branches in typical fashion, except that some were of different lengths to reach the organs that they supplied. One such vessel was the proper hepatic artery as it had to traverse the abdominal cavity further horizontally than typical due to the displacement of the liver. The inferior mesenteric artery took a looping path to the right lower quadrant due to the displacement of the sigmoid colon. The middle colic artery branch of the superior mesenteric traveled vertically and to the left to supply the transverse colon located in the left upper quadrant.Literature provides few examples of this anomaly. An autopsy of a 39 year old African American female had similar presentation of the liver and gall bladder but no report of unusual presentation of the colon.(https://www.hindawi.com/journals/crihep/2013/493713/(2013)) It was also reported as a result of a CT scan of an 82 year old Indian male that was performed due to left flank pain (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6159280/(2017)). Noted during exploratory surgery of a 30‐year‐old African American male with a pleuroperitoneal hiatus that also had congenital deformities of the right upper extremity and a club foot, the liver was rotated into the left upper quadrant with a posteriorly placed gall bladder (Diseases of the Chest 29: 583‐4(1956)).

Bibliometric Analysis of Publications on Cleft Lip and Palate

Cleft lip and palate (CLCP) is a frequently occurring congenital anomaly of craniofacial structure and the second most common after club foot. The aim of this bibliometric analysis was to provide a summary of countries, universities, authors, journals, and research data related to CLCP. Method: CLCP studies published in PubMed indexed journals from 1976 to 2021 were extracted from the Science Citation Index expanded core database. Publication of authors, journals, universities, and countries were retrieved and quantitatively analyzed using the R-Studio biblioshiny package.The core data set included a total of 99 Journals and books. 198 documents were recognized. Top 20 PubMed indexed journals were selected, which publish the data regarding CLCP. 20 universities were also analyzed for treatment of CLCP. Average years from publication are 11.7 years. Results: A total of 198 documents were extracted. Documents were derived from 1976-2021. The number of documents/publication research steadily increased from 1976 till 1990. Then there was fall in number of papers and research articles. Over the time, from 2010 till 2021, publications have tremendously increased from all over the world. Different countries and universities with collaboration strategies have started research work in this field. Conclusion: This research includes data of 46 years, therefore, this bibliometric research of CLCP will provide complete knowledge of trends in CLCP during these years. This will provide an insight for new research projects across the globe.

Anatomical Structures Responsible for CTEV Relapse after Ponseti Treatment.

Relapse of deformity after a successful Ponseti treatment remains a problem for the management of clubfoot. An untreated varus heel position and restricted dorsal flexion of the ankle are the main features of recurrences. We analyze the anatomical structures responsible for these recurrences. Materials and methods: During 5 years, 52 children with CTEV (Congenital Talipes Equino Varus) were treated with casts according to the Ponseti method, with a mean number of 7 casts. Closed percutaneous tenotomy was performed in 28 infants. Children were followed monthly and treated with the continuous use of a molded cast. We had 9 children with relapsed clubfeet. During the standing and walking phase, they had a fixed deformity with a varus position of the heel and dorsal flexion of the ankle <10 d. They were surgically treated with the posterolateral approach. Results: In all patients, we found a severe thickening of the paratenon of the Achilles in the medial side, with adhesions with the subcutaneous tissue. The achilles after the previous tenotomy was completely regenerated. The achilles was medially displaced. Conclusions: A severe thickening of the paratenon of the achilles and adhesions with the subcutaneous tissue are anatomical structures in fixed relapsed cases of clubfoot. We treated our patients with an appropriate surgical release.

LOW TEMPERATURE THERMOPLASTIC SPLINTING IN THE MANAGEMENT OF CONGENITAL TALIPES EQUINOVARUS

Congenital talipes equinovarus (CTEV) is one of the most common congenital deformities. Treatment of clubfoot should begin at the earliest to have the best outcome. The goal of treatment is to eliminate all deformities of CTEV so that patient has a functional, pain free, plantigrade foot with good mobility within minimum time duration. Treatment includes non-surgical and surgical methods. Conventionally Plaster of Paris (POP) is used for splinting though leather, polypropylene and rubber are also used. Objective of this study is to evaluate the effectiveness of low temperature thermoplastic (LTTP) splinting in CTEV management. This is an on observational study over a period of one year in Thirty-two CTEV patients with Pirani score of less than three. Effectiveness of LTTP splinting was evaluated in detail. It was found that LTTP splinting was cost effective, cosmetically better, reusable, demoldable, and easier to apply. It was of light weight, and required lesser time. It avoids the need for repetitive casting and same splint can be used as maintenance splint also. Pirani score lowered from 3 to 0 after 6 months of splinting. Conclusion –The compliance in donning the splint was high and acceptable among the children studied. Parental satisfaction regarding the splint wearing time and correction of deformity factor was high. Skin complications associated with POP casting were absent in the study population. Hence correction of CTEV with LTTP splinting was more effective than conventional POP casting.

Frequency Risk Factors and Pattern of Congenital Anomalies in Neonates in Nawabshah Pakistan

Objectives: The objectives of this study were to determine the frequency, risk factors and pattern of congenital anomalies in neonates admitted at a tertiary care hospital.&#x0D; Methodology: It was a descriptive cross-sectional study. Research was conducted at NICU Pediatric ward, PMCH Nawabshah. Duration of study was 6 months after the approval of synopsis from January 2020 to July 2020. This study involved 300 neonates in NICU which were screened for congenital anomalies. Age, gender and birth weight of the neonate was recorded. Mothers were also enquired about consanguinity and use of folic acid and smoking and diabetic status during pregnancy. Frequency and type of birth defect were noted and were compared across various subgroups based on various neonatal and maternal factors.&#x0D; Results: The mean age of the neonates was 10.5±7.4 days while the mean birth weight was 2.89±0.74 Kg. There were 174 (58.0%) male and 126 (42.0%) female neonates with a male to female ratio of 1.4:1. 77 (25.7%) neonates were low birth weight. Birth defect was noted in 35 (11.7%) neonates. 3 neonates had multiple anomalies. The frequency of birth defects was significantly higher in women with no use of folic acid during pregnancy (14.8% vs. 5.2%; p-value=0.015) and cousin marriage (16.6% vs. 2.8%; p-value&lt;0.001).&#x0D; Conclusion: In the present study, 11.7% of neonates had birth defects comprising of congenital hydrocele, spina bifida, cleft lip/palate and club foot that were associated with lack of folic acid use during pregnancy and cousin marriages. Public awareness against cousin marriages and antenatal counseling of mothers for routine folic acid use during pregnancy should be assured for this.

Ruptured meningomyelocele reconstructed with rhombic flap

Meningomyelocele (MMC) is one of the adverse birth outcomes in Jamaica related to a low socioeconomic status and health care limitations. We present a case of a male neonate with a ruptured lumbar MMC, hydrocephalus, Chiari type 2 malformation and talipes equinovarus. Surgical repair of the MCC accompanied by reconstruction of the skin defect with a transposition flap was accomplished within 48 hours. Subsequently there was the insertion of a ventriculoperitoneal shunt. The reconstructive surgeon is posed with a challenge to select the ideal method of closure that is tailored to the shape and size of this large defect while working in a multidisciplinary team.

The Spectrum of External Dysmorphic Features among Newborns

Background: There is a frequent underreporting of minor congenital anomalies. The present study was conducted to identify and record the birth defects (external dysmorphism) among newborns delivered in district hospital attached to Mandya Institute of Medical Sciences, Mandya, for a duration of 1 year. Methodology: After obtaining the parent's written informed consent, newborns were examined for birth defects (visible external dysmorphic features). The details were recorded in the self-designed proforma, and findings/data were statistically studied. Birth defects were analyzed using the WHO International Classification of Diseases 10 reference guide. Results: During the present study, 502 live newborns were examined physically for external dysmorphic features and 17 cases were diagnosed as external congenital dysmorphism. In the present study, the frequency of congenital external dysmorphism was 3.4% and the most common system involved was a musculoskeletal system followed by cutaneous and central nervous system anomalies. We report five cases of talipes equinovarus, two cases of preauricular skin tags, one case each of polydactyly, syndactyly, harlequin ichthyosis, VACTERAL (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities) association, Down syndrome, spina bifida cystica, spina bifida occulta, preauricular tags, preauricular sinus, cleft hard palate, and cleft lip with palate among other congenital anomalies noted. Conclusion: In the present study, the frequency of congenital external dysmorphism was 3.4% and the most common system involved was a musculoskeletal system (41.2%).

Talipes Equinovarus surgical Management after Failure of Ponseti Technique in Children

Talipes Equinovarus surgical Management after Failure of Ponseti Technique in Children

Incidence of Congenital Talipes Equinovarus among Children Reporting at Tertiary Care Hospital

Objective: To determine the incidence of congenital talipes equinovarus among children reporting at tertiary care hospital. Study setting &amp; Duration: The study was conducted at Watim Medical &amp; Dental College Rawat, Rawalpindi in the departments of Anatomy, Medical education &amp; Dentistry from January 2021 to December 2021. Materials and Methods: There were 988 participants in this study. An easy questionnaire was used to gather information on children with CTEV who presented themselves to the outdoor department. Both consanguineous and non-consanguineous relationships were considered. Results: A total of 96 (9.7%) children presented with congenital talipes equinovarus or club foot and out of these children 56 (5.7%) patients were males and 40 (4.04%) were female. Conclusion: Clubfoot or congenital talipes equinovarus is one of the most common abnormalities of the foot and idiopathic talipes equinovarus is most common in the studied population. It is more common in males and is mostly bilateral. It should be detected at birth and treated early to prevent permanent disability. Keywords: Children, CTEV, idiopathic, consanguinity

FACTORS ASSOCIATED WITH RECURRENCE CLUBFOOT

Background: Clubfoot is an intricate deformity of ankle and foot involving bony mal-alignment, adduction of forefoot, and hind-foot Varus, cavus, and equines caused by contracture of soft tissues. The many factor contribute to relapse of clubfoot, are neglected when advise the Proper pan of care. Objective: To find the association of clubfoot recurrence with no proper exercise and improper fitting of Denis Browne splint shoe. Materials &amp; Methods: A cross sectional study was conducted at PIPOS Rehabilitation Service Program (PRSP), Peshawar. The data was collected from a sample of n=300 patients in Pakistan Institute of Prosthetic and Orthotic Science. The non-probability convenient sampling technique was used for data collection. The duration of the study was 6 months (April 2019 to October 2019). The male and female recurrent clubfoot children whose are either infant or till the age of 6 and registered in PRSP. The data collection was done through an international club foot registry form and self structured questionnaire. The results are presented in term of descriptive statistics and Chi-Square test was also performed to assess club foot and other variable association with each other. Results: The result showed n=110(37.3%) participants reported they had no proper fitting of Denis Browne Splint shoe (DBS) and n=97(32.3%) showed they underwent no proper exercise follow up. There was significant association of club foot recurrence with improper fitting of DBS (p&lt;0.001) and no proper exercises (p=0.02). Conclusion: The study indicated that without proper exercises and in appropriate fitting of DBS may lead to recurrence of club foot. Keywords: Congenital Talipes Equinovarus, Clubfoot, Denis Browne Splint, Ponseti method

Congenital dislocation of the knee with bilateral absence of the fibula and suspected Apert syndrome – case report

Congenital dislocation of the knee is a rare deformity, with an unknown etiology. The treatment of this malformation depends on its extensiveness and applies both conservative approach and surgical procedures. The aim of this study is to evaluate treatment outcomes obtained in the patient with congenital dislocation of the right knee and other multiple abnormalities of the motor system as well as the suspicion of Apert syndrome. Between 2005 and 2019, patient with congenital knee dislocation was treated surgically in two medical centers. Authors performed a retrospective analysis of available data from medical archives. The patient first presented to the authors of this study at the age of nine months. Imaging diagnostics revealed complete luxation of the right knee, grade III according to Leveuf and club feet with no fibula bones in the lower legs. The objective of the multi-stage surgical treatment was to enable the patient to walk. Stage one involved a reposition of the congenital right knee dislocation following the Curtis and Fisher technique. The next stage involved a foot surgery – first the left one and then the right. At the age of 5, during the follow-up, the patient was very active: he kept walking, running and jumping and both his feet were in the right position. However, in the following year, a gradual increase of rotation disorders was observed in both lower legs. When the child was 6 years, he underwent derotation osteotomies in both tibia bones. Next, at the age of 12, he underwent anterior femoral hemiepiphysiodesis around right knee with two 8-plates. Plates were removed when he was 14. The last follow-up took place when the patient was 14. The patient is 100% able-bodied and can walk on his own. To sum up, patients with congenital knee dislocation make up a highly complex group that requires multidisciplinary care and frequently also multistage treatment.

Ponseti method under general anesthesia is an effective method of treatment for neglected congenital talipes equino varus: a cohort study.

Background:Neglected congenital talipes equino varus (CTEV) deformity is common in poorer developing countries. If ignored, children with CTEV result in callosity, potential bone and skin infection, and a significant mobility limitation resulting from stiffness. There are many management options that can be used to manage neglected CTEV. Until now, the Ponseti casting technique is a gold standard for treating CTEV without surgery. Ponseti methods effectively correct CTEV deformity in all ages. However, patients treated with the Ponseti process will suffer pain during correction in daily practice. Therefore, it is necessary to give anesthesia to reduce pain and relax soft tissues to achieve a satisfactory outcome when correction is carried out. Methods:This study design is a retrospective. Our study consisted of 32 patients, divided into two groups. Group A is the group that was treated with the Ponseti using general anesthesia (GA), and group B is the group without using GA. The children were anesthetized using isoflurane inhalation with 1-2 mcg/kg. After that, we performed serial casting every week and evaluated the outcome and number change cast between using GA and without GA. Lastly, we used a paired t-test statistical analysis to determine the relationship between before and after therapy. Results:In group A, the mean Pirani score significantly reduced from 5.81 ± 0.403 to 0.625 ± 0.40. In contrast with roup B, where the mean Pirani score slightly decreased from 5.81 ± 0.403 to 4.437 ± 1.093. After the last serial cast, in group A, only four cast replacements were needed to achieve a good outcome, whereas, in group B, the results remained unsatisfactory after 10 cast changes. Conclusions: Ponseti method under GA is an effective treatment and reduced the number of cast changes for neglected CTEV.

A unique case of coexisting intrauterine and abdominal pregnancy which progress to term with a positive birth outcome

BackgroundThe term heterotopic pregnancy is defined as a uterine pregnancy coexisting with a second pregnancy in an extrauterine location. Spontaneous, full-term heterotopic pregnancy with alive birth is very rare. The diagnosis and management of such exceptionally unique case is difficult. When the patient presented with an advanced labor with no antenatal care follow up and with no risk factors is even more challenging for poorly equipped facilities like ours.Case presentationA 25 years old gravida 3, para 2 (both are alive) mother presented to the labor and delivery ward of Bele Primary Hospital, Southern Ethiopia with the complaint of pushing down pain of 18 h duration. Immediately after arrival, she gave birth to a 3300gm female neonate spontaneously. After delivery, an abdominal mass was recognized and manual exploration of the uterus was done to look for the presence of after coming second twin but the uterus was empty. On ultrasound examination, there was an alive fetus in transverse lie outside the uterus. With the impression of 2nd twin in a separate horn of bicornuate uterus and to rule out abdominal pregnancy, laparotomy was done. On laparotomy, there was abdominal pregnancy in the Pouch of Douglas with an intact amniotic sac. The sac was attached with the left broad ligament, left ovary, small bowel mesentery, and posterior wall of the uterus. The sac opened, a 1600gm alive female neonate with features of fetal growth restriction and left club foot was delivered. The placenta was detached spontaneously and removed without any complication.ConclusionsThe coexistence of spontaneous full-term intrauterine with advanced abdominal ectopic pregnancy is one of the rarest forms of heterotopic pregnancy. Every health professional should bear in mind that intrauterine and extrauterine pregnancy may happen simultaneously and it can progress to term without any symptoms. Ultrasound is the diagnostic method of choice but the existence of an intra-uterine pregnancy cannot rule out ectopic pregnancy. The life-threatening complication of abdominal ectopic pregnancy is bleeding from the detached placental site. Therefore, the decision to remove the placenta should be individualized.

Method of radioulnar superposition in the treatment of patients with congenital radial club hand

New technique for the treatment of congenital club foot in patients with great malformation of the radius in the distal forearm is presented. Surgical intervention consists of 2 stages. First the distraction device is applied to correct the radius deviation and simultaneously to descent the hand distally together with hypoplastic radius. On the second stage the distraction device is taken off, partial resection of the distal ulnar epiphysis and resection of the proximal end of the hypoplastic radius is performed with following reposition of the ends. This method radioulnar superposition enables to eliminate the club hand, to preserve the wrist joint and to restore its physiologic functions.

EP459: Rare clinical gene variant of SOX9: Acampomelic campomelic dysplasia

eP459: Rare clinical gene variant of SOX9: Acampomelic campomelic dysplasia

EP460: Diagnostic dilemma in a case of suspected fetal skeletal dysplasia

Intrauterine fetal fractures are a rare finding and can represent lethal skeletal dysplasias such as Osteogenesis Imperfecta, or other metabolic or structural abnormalities. More than 400 skeletal dysplasias have been described; some are associated with classical modes of inheritance, while others are associated with imprinting errors, mosaicism, and teratogen exposure. Accurate prenatal diagnosis is critical for appropriate patient counseling, pregnancy management and expected postnatal outcomes. Prenatal ultrasound (US) remains the standard imaging modality for identifying prenatal structural abnormalities; this, coupled with genetic testing, can aid in establishing diagnoses. Available clinical testing includes chromosome microarray, panel testing, exome, and genome sequencing (ES and GS, respectively). Despite the availability of ES and GS, the genetic or molecular mechanism may remain elusive. Here we present a case of suspected campomelic dysplasia which remains a diagnostic dilemma despite thorough genetic evaluation. A 31-year-old Gravida 2 Para 1-0-0-0 at 20 weeks gestation presented for anatomy US at our Maternal Fetal Medicine clinic. This was an IVF pregnancy. Her obstetric history is complicated by one prior emergency Cesarean delivery for a 35-week fetus with decreased fetal movement and non-reassuring fetal heart tones. The neonate passed 5 days after birth with severe encephalopathy of unknown etiology. The patient and partner are otherwise healthy and have no pertinent medical or surgical history. Family history was non-contributory. Initial anatomy US for current pregnancy revealed a singleton female fetus with severely bowed femurs bilaterally with concern for fracture on the right femur, talipes equinovarus of left foot, with all bones showing normal ossification. The fetus was growth restricted at <10th percentile with all shortened long bones. Markers of lethality of skeletal dysplasia including cardiothoracic (CT) ratio was 53% (normal <50%), and femur length (FL): abdominal circumference (AC) ratio was 0.11 (Normal >0.16). These findings prompted diagnostic genetic work up with amniocentesis sent for FISH, chromosome microarray, and a 700 gene skeletal dysplasia panel; all of which returned normal. Sonographic surveillance continued to show a constellation of findings concerning for skeletal dysplasia including bilateral proximal femoral diaphyseal bowing/fractures, left clubfoot, 11 total ribs, micrognathia, chest-to-abdominal circumference CC/AC ratio 0.87, and FL/AC ratio 0.19 (considered severe when CC/AC <0.60 or FL/AC <0.16). Fetal MRI at 32 weeks demonstrated normal fetal brain structure, short femurs, normal lung volumes, unilateral talipes and micrognathia. The patient underwent prenatal ES, which was negative for pathogenic or likely pathogenic variants associated with the prenatal phenotype. The patient underwent a repeat Cesarean Delivery at 38w2d and delivered a liveborn female neonate weighing 2670 grams with Apgar scores of 7 and 9 at 1 and 5 minutes respectively. ENT was available at bedside for possible neonatal airway compromise. On postnatal physical exam, the neonate was normocephalic with age appropriate fontanelles. There was micrognathia with intermittent airway obstruction and evidence of Pierre Robin sequence. The spine was straight without lesions, both femurs were shortened with clubbing of the left foot. All fingers and toes appeared normal. A skeletal survey revealed 12 ossified rib pairs, hip dislocation, lateral bowing/angulation of the mid femoral diaphyses, as well as club feet bilaterally. No fractures were identified. With exception of hip abduction, she had appropriate movement of her extremities. Postnatal expanded GS was pursued; results revealed no pathogenic, likely pathogenic or variants of uncertain significance. Further research -based testing was pursued through Optical Mapping; this revealed several genomic insertion, deletion, inversion, duplication, and translocation events involving multiple genes. However, after review by our Center for Individualized Medicine (CIM) Genomic Odyssey Board (GOB) team, none of the reported genomic events were felt to be a good fit with the infant’s phenotype. This case remains a diagnostic dilemma. Rapid GS and research based optical mapping failed to identify an underlying genetic etiology. This case illustrates challenges associated with prenatal diagnosis of suspected skeletal dysplasias.