Midface Hypoplasia Research Articles

Institutional Orthognathic Intervention after Orofacial Cleft Repair: A Systematic Review and Meta-Analysis

Orofacial cleft deformities are prevalent congenital defects which can affect approximately 7.75 neonates out of every 10 000 live births.1 As these patients age, they receive surgical correction of their orofacial clefts, and subsequent midface hypoplasia is a commonly reported problem. Between institutions, the reported incidence of the surgical correction for midface hypoplasia varies drastically. The relationship between the need for orthognathic corrective surgery, the institution’s preferred surgical protocol, and threshold for orthognathic surgery remains unclear. Some institutions report orthognathic surgery rates as high as 70%.2 An improved understanding of the overall incidence of orthognathic surgery and treatment patterns is important to determine optimal treatment and standard of care for these patients.

The Relationship between Palatoplasty Timing and Midface Hypoplasia: A Systematic Review and Meta-Analysis

The Relationship between Palatoplasty Timing and Midface Hypoplasia: A Systematic Review and Meta-Analysis

Fourteen-year follow-up of a child with acroscyphodysplasia with emphasis on the need for multidisciplinary management: a case report

BackgroundAcroscyphodysplasia has been described as a phenotypic variant of acrodysostosis type 2 and pseudohypoparathyroidism. In acrodysostosis, skeletal features can include brachydactyly, facial hypoplasia, cone-shaped epiphyses, short stature, and advanced bone age. To date, reports on this disorder have focused on phenotypic findings, endocrine changes, and genetic variation. We present a 14-year overview of a patient, from birth to skeletal maturity, with acroscyphodysplasia, noting the significant orthopaedic challenges and the need for a multidisciplinary team, including specialists in genetics, orthopaedics, endocrinology, and otolaryngology, to optimize long-term outcomes.Case presentationThe patient presented as a newborn with dysmorphic facial features, including severe midface hypoplasia, malar flattening, nasal stenosis, and feeding difficulties. Radiologic findings were initially subtle, and a skeletal survey performed at age 7 months was initially considered normal. Genetic evaluation revealed a variant in PDE4D and subsequent pseudohypoparathyroidism. The patient presented to the department of orthopaedics, at age 2 years 9 months with a leg length discrepancy, right knee contracture, and severely crouched gait. Radiographs demonstrated cone-shaped epiphyses of the right distal femur and proximal tibia, but no evidence of growth plate changes in the left leg. The child developed early posterior epiphyseal arrest on the right side and required multiple surgical interventions to achieve neutral extension. Her left distal femur developed late posterior physeal arrest and secondary contracture without evidence of schypho deformity, which improved with anterior screw epiphysiodesis. The child required numerous orthopaedic surgical interventions to achieve full knee extension bilaterally. At age 13 years 11 months, she was an independent ambulator with erect posture. The child underwent numerous otolaryngology procedures and will require significant ongoing care. She has moderate intellectual disability.Discussion and conclusionsKey challenges in the management of this case included the subtle changes on initial skeletal survey and the marked asymmetry of her deformity. While cone-shaped epiphyses are a hallmark of acrodysostosis, posterior tethering/growth arrest of the posterior distal femur has not been previously reported. Correction of the secondary knee contracture was essential to improve ambulation. Children with acroscyphodysplasia require a multidisciplinary approach, including radiology, genetics, orthopaedics, otolaryngology, and endocrinology specialties.

Phenotypic and Molecular Cytogenetic Analysis of a Case of Monosomy 1p36 Syndrome due to Unbalanced Translocation

Monosomy 1p36 syndrome is one of the most common submicroscopic deletion syndromes, which is characterized by the presence of delayed developmental milestones, intellectual disability, and clinically recognizable dysmorphic craniofacial features. The syndrome comprises 4 cytogenetic groups including pure terminal deletions, interstitial deletions, complex rearrangements, and derivative chromosomes 1 due to unbalanced translocations, where unbalanced translocations represent the least percentage of all cases of monosomy 1p36 (7%). Most patients with monosomy 1p36 due to an unbalanced translocation can be cytogenetically diagnosed using conventional techniques. However, chromosomal microarray analysis is mandatory in these cases to detect copy number variance and size of the deletion and allows for setting a phenotype-genotype correlation. Here, we studied a 1.5-year-old female patient who showed intellectual disability, delayed milestones, hypotonia, seizures, and characteristic dysmorphic features including brachycephaly, straight eyebrows, deep-set eyes, downslanting palpebral fissures, midface hypoplasia, depressed nasal bridge, long philtrum, and pointed chin. Conventional cytogenetic analysis (CCA), microarray study, and fluorescence in situ hybridization (FISH) analysis were performed. CCA showed a translocation involving chromosomes 1 and 21, 45,XX,der(1)t(1;21)(p36.32;q21.1)dn. Microarray analysis revealed copy number losses at both 1p36 and proximal 21q. FISH confirmed the presence of the 1p36 deletion, but was not performed for 21q. We have concluded that phenotype-genotype correlation for monosomy 1p36 syndrome can be performed for the fundamental clinical manifestations; however, the final aspect of the syndrome depends on composite factors. Monosomy 1p36 due to unbalanced translocation may present either classically or with additional altered features of various severity based on the copy number variations involving different chromosomes.

A Meta-Analysis of Palatal Repair Timing.

Developing midface hypoplasia is common after palatoplasty and has been hypothesized to be influenced by the timing of hard palate repair. This meta-analysis assesses the risk of developing midface hypoplasia based on age at hard palate repair. A Pubmed PRISMA systematic review and meta-analysis was completed for literature focused on palatoplasty and midface hypoplasia published between 1970 and 2019. Cephalometric data were extracted and categorized by age at hard palate repair: <6, 7 to 12, 13 to 18, 19 to 24, and 25 to 83 months. Analysis of these groups and a control were compared using independent T-tests and Spearman correlation coefficients. SNA angles for each group were 77.9 ± 3.1° (<6 months), 77.7 ± 4.2° (7-12 months), 78.7 ± 4.2° (13-18 months), 75.1 ± 4.2° (19-24 months), 75.5 ± 4.8° (25-83 months), and were statistically different than the control group 82.4 ± 3.5° (P < 0.0001). Hard palate repair at 13 to 18 months had a statistically significant greater SNA angle than all other groups except for the repair at <6 months group (P = 0.074). As age at hard palate closure increased beyond 18 months, the SNA decreased, corresponding to a more hypoplastic maxilla (Spearman's correlation coefficient -0.381, P = 0.015). Analysis suggests that younger age at the time of repair is less likely to create in midface hypoplasia in adulthood. Minimizing midface hypoplasia in cleft palate patients by optimizing algorithms of care is a practical way to decrease the burden of disease on patients, families and medical systems. Further studies are needed to evaluate the role of technique on outcomes.Level of Evidence: IV.

Robinow Syndrome : an anesthetic challenge and review of literature

Robinow Syndrome is characterized by the presence of mesomelic limb shortening, midfacial hypoplasia, hemivertebrae and genital hypoplasia. Multi- organ involvement including cardiac, renal, vertebral dysfunctions have been described.We here report successful anaesthetic management of 1year old boy posted for ophthalmic procedure.

Modified high-level Le Fort I advancement without malar augmentation: assessment of effect on midfacial aesthetics

The ‘beauty arch’, an aesthetic feature of the midface, is a double-S-shaped curve that extends downward from the lateral canthus. This retrospective study evaluated whether modified high Le Fort I advancement (combined with impaction or down-grafting) without malar augmentation can approximate a patient’s ‘ideal’ beauty arch (IBA). Pre- and postoperative profile (natural head position) photographs for 36 patients with midfacial hypoplasia were aligned digitally. For each individual, standardized methods were used to identify landmarks and draw the preoperative real beauty arch (RBA), postoperative RBA, and IBA. Distances from a defined landmark to each arch were measured and means were compared. The mean advancement range was 4.2 ± 2.2 mm, and the mean pre- and postoperative RBA distances were significantly different (138.7 ± 24.1 vs 145.0 ± 25.8 pixels, respectively; P = 0.0001). In the impaction and down-grafting subgroups, there was no significant correlation between amount of maxillary movement and the difference between pre- and postoperative RBA distances (P > 0.05 for both). The postoperative RBA was satisfactorily close to the IBA in 35 cases (97.2%); one patient required later augmentation. The findings suggest that modified high Le Fort I advancement surgery without malar augmentation provides satisfactory malar projection for most patients with maxillary hypoplasia.

High flow nasal cannula treatment for obstructive sleep apnea in infants and young children.

Continuous positive airway pressure (CPAP) is the nonsurgical treatment of choice for children with obstructive sleep apnea (OSA). However, CPAP limitations include difficulty with adherence and midface hypoplasia risk. We, therefore, sought to assess the effect of warm humidified air delivered via open nasal cannula (HFNC) on OSA in children in the sleep laboratory and at home. A retrospective review was performed among children recommended treatment of OSA with HFNC. Reasons for HFNC recommendation included poor surgical candidacy, residual OSA following surgery, and CPAP intolerance. Children underwent both diagnostic and HFNC titration sleep studies and were prescribed HFNC for home use. Standard sleep architecture, arousals, and apnea-hypopnea indices (AHI) were assessed with the evaluation of reported adherence and complications over 12 months of treatment. Twenty-two children (average 12.8 months, 95% confidence interval [95% CI: 7.0, 18.6]) with OSA (obstructive AHI [OAHI] range: 4.8-89.2 events/h) underwent HFNC titration with significant reduction in OAHI (28.9 events/h [17.6, 40.2] vs 2.6 [1.1, 4.0]; P < .001) (mean [95% CI]). Nineteen patients received home HFNC treatment. By 12 months, four patients were lost to follow-up and OSA resolved in three patients (16%). Of 12 remaining patients, 7 (58%) continued therapy while 5 (42%) discontinued due to intolerance. The most common treatment complication was cannula dislodgement. Additional complications included skin irritation, dry mucus membranes, restlessness, oxygen desaturation, and increased central apneas. HFNC offers a treatment alternative to CPAP in infants and young children with OSA and was well tolerated at home in our study.

Circummaxillary Sutures in Patients With Apert, Crouzon, and Pfeiffer Syndromes Compared to Nonsyndromic Children: Growth, Orthodontic, and Surgical Implications.

To evaluate patency of circummaxillary sutures in children with Apert, Crouzon, and Pfeiffer Syndromes and to compare it to a nonsyndromic matched control group. Case-control study. Tertiary care public hospital. Thirty-eight computed tomography (CT) scans of patients affected by syndromic craniofacial synostosis (13 patients with Apert syndrome, 20 patients with Crouzon syndrome, and 5 patients with Pfeiffer syndrome), average age 5 ± 2.8 years, range 1.9 to 12 years, were compared to age- and sex-matched control CTs of 38 nonsyndromic children. Computed tomography scans of the study group had to be performed prior to any midfacial surgery. Midpalatal suture, zygomaticomaxillary sutures, and pterigomaxillary sutures were evaluated and scored. The syndromic group showed a significant earlier ossification of all sutures compared to the nonsyndromic group. Significant differences were already present in early childhood and continued through adolescence. Based on the differences in terms of maxillary sutural ossification identified, midfacial hypoplasia does not seem to be only secondary to premature cranial base ossification, but also to primary synostosis of facial sutures, thus providing new insights into the pathogenesis of midface deficiency in children with craniofacial-synostosis. Care should be taken when planning any maxillary orthopedics, such as expansion or maxillary protraction, given the high frequency of early fusion of circummaxillary sutures.

Surgical Planning for Cleft Lip and/or Palate-Induced Moderate-to-Severe Midfacial Hypoplasia.

Distraction osteogenesis and conventional bimaxillary orthognathic surgery have been performed for the treatment of midfacial hypoplasia for a long time. However, the effect of these 2 techniques on the maxilla, mandible, and whole-facial profile is significantly different. In this study, we aimed to measure the pre- to post-treatment changes in maxillary prominence, mandible size, and facial length and compare them between these 2 techniques to inform selection of the best technique. This single-center, retrospective study included 35 patients with a cleft lip and/or palate-induced midfacial hypoplasia; 25 were treated using rigid external distraction osteogenesis and 10 using bimaxillary orthognathic surgery. Three-dimensional measures of changes in facial structure were obtained from reconstructed computed tomography images and used to compare the effects of the 2 techniques. Satisfactory appearance and occlusion were achieved in all patients. Three-dimensional reconstruction of the craniofacial skeleton revealed significant maxillary advancement (P < 0.001), mandibular (clockwise) rotation (P < 0.001), and increased facial length (P < 0.001) after rigid external distraction osteogenesis and obvious shortening of the mandibular body (P < 0.001) after bimaxillary orthognathic surgery. Distraction osteogenesis can be selected as the first choice of treatment for cleft lip and/or palate-induced midfacial hypoplasia. A mandibular setback procedure can be performed as a second-stage surgery when severe temporomandibular joint complications develop with distraction osteogenesis. Bimaxillary orthognathic surgery results in an obvious shortening of the mandibular body, which is not a natural change in facial morphology. Therapeutic III.

Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism.

We describe five members of a consanguineous Pakistani family (Family I) plus two affected children from families of different ethnic origins presenting with neurodevelopmental disorders with overlapping features. All affected individuals from families have intellectual disability (ID), ranging from mild to profound, and reduced motor and cognitive skills plus variable features including short stature, microcephaly, developmental delay, hypotonia, dysarthria, deafness, visual problems, enuresis, encopresis, behavioural anomalies, delayed pubertal onset and facial dysmorphism. We first mapped the disease locus in the large family (Family I), and by exome sequencing identified homozygous ZNF407 c.2814_2816dup (p.Val939dup) in four affected members where DNA samples were available. By exome sequencing we detected homozygous c.2405G>T (p.Gly802Val) in the affected member of Family II and compound heterozygous variants c.2884C>G (p.Arg962Gly) and c.3642G>C (p.Lys1214Asn) in the affected member of Family III. Homozygous c.5054C>G (p.Ser1685Trp) has been reported in two brothers with an ID syndrome. Affected individuals we present did not exhibit synophrys, midface hypoplasia, kyphosis, 5th finger camptodactyly, short 4th metatarsals or limited knee mobility observed in the reported family.

Alterations of upper airway volume caused by Le Fort III osteodistraction in children

PurposeThe aim of the study was to assess changes in the upper respiratory tract and sleep quality in patients who were suffering from midfacial hypoplasia and treated with the movement of underdeveloped middle segment of the face with an Le Fort III osteotomy and distraction. MethodsIn this study patients aged 7–19, suffering from Crouzon syndrome, Apert syndrome, or other craniosynostosis were treated with Le Fort III osteotomy and midface distraction. Patients were subjected to radiological examination and polysomnography before and after the treatment. Typical anthropometric points were identified on lateral cephalograms, and were used to take linear and angular measurements. The surface and the volume of the upper respiratory tract were measured with the Dolphin Imaging software. Apnoea Hypopnea Index (AHI) was used to assess the sleep quality. ResultsIn all 18 patients the analysis showed statistically significant changes of the AHI and in the linear, angular and volumetric measurements. Mean change of the volume of the upper respiratory tract was 12,4 ± 11,3cm3(p = 0,0001) and of the surface was 615 ± 521 mm2 (p = 0,0000000002). Mean improvement of AHI was 9 ± 6,2 (p = 0,00006). In three cases patients had tracheostomy prior to operation and none of them required tracheostomy after the operation. ConclusionsThe use of distraction osteogenesis of the middle segment of the face combined with Le Fort III osteotomy results in dilation of the upper respiratory tract at the nasopharyngeal level and at the soft palate level resulting in elimination of sleep and respiration disorders. Further studies with polysomnography are necessary, as well as observation of patients over time and monitoring of treatment stability.

Midface distraction osteogenesis using a modified external device and 3D virtual simulation: technical note.

Distraction osteogenesis (DO) with an external distraction device such as the rigid external distraction frame has become an established method for treating midface hypoplasia in faciocraniosynostosis. It allows for greater advancement of the midface in comparison with traditional Le Fort III osteotomies, associated or not with fronto-orbital osteotomies (Le Fort IV). However, the forward movement of the bone segments may not always be performed obeying an ideal distraction vector, resulting in asymmetries, anterior open bite, and loosening of screws. In addition, the cost of the distraction devices is significant and may preclude their routine use in developing countries. We present an alternative device and method for craniofacial advancement in a clinical case of Crouzon's syndrome. A 3D virtual simulation of the distraction vector and a modified external device were used in the current case. The alternative external device in this case proved to be safe, effective, and reliable.

Double heterozygous variants in FBN1 and FBN2 in a Thai woman with Marfan and Beals syndromes

A phenotype of an individual is resulted from an interaction among variants in several genes. Advanced molecular technologies allow us to identify more patients with mutations in more than one genes. Here, we studied a Thai woman with combined clinical features of Marfan (MFS) and Beals (BS) syndromes including frontal bossing, enophthalmos, myopia, the crumpled appearance to the top of the pinnae, midface hypoplasia, high arched palate, dermal stretch marks, aortic enlargement, mitral valve prolapse and regurgitation, aortic root dilatation, and progressive scoliosis. The aortic root enlargement was progressive to a diameter of 7.2 cm requiring an aortic root replacement at the age of 8 years. At her last visit when she was 19 years old, she had moderate aortic regurgitation. Exome sequencing revealed that she carried the c.3159C > G (p.Cys1053Trp) in exon 26 of FBN1 and c.2638G > A (p. Gly880Ser) in exon 20 of FBN2. The variant in FBN1 was de novo, while that in FBN2 was inherited from her unaffected mother. Both genes encode for fibrillins, which are essential for elastic fibers and can form the heterotypic microfibrils. Two defective fibrillins may synergistically worsen cardiovascular manifestations seen in our patient. In this study, we identified the fourth patient with both MFS and BS, carrying mutations in both FBN1 and FBN2.

Staged Orthodontic, Orthognathic Surgery and Open Septorhinoplasty for Management of Cleidocranial Dysplasia: A Case Report

Background: Cleidocranial dysplasia (CCD) is a rare autosomal dominant disorder with a prevalence of 1:1,000,000. These patients often present with dentofacial deformities such as midface hypoplasia, multiple supernumeraries and delayed eruption and non-eruption of permanent teeth. Case Presentation: We report a staged orthodontic, orthognathic surgery and open septorhinoplasty management of a 13-year-old male Chinese Singaporean patient diagnosed with cleidocranial dysplasia. He presented with multiple retained primary teeth, buried supernumerary teeth and unerupted permanent teeth. He had a Class III malocclusion and concave facial profile. The multidisciplinary management, which took place over 12 years, resulted in much improved occlusion and facial aesthetics. Conclusion: Collaboration of different specialties and careful planning is required for the successful treatment of cleidocranial dysplasia

Long Term Speech Outcomes Following Midface Advancement in Syndromic Craniosynostosis.

Midface advancement by distraction osteogenesis (DO) is commonly performed in patients with craniosynostosis for indications including midface hypoplasia, exorbitism, obstructive sleep apnea, class III malocclusion, and overall aesthetic facial deficiency. There is evidence to suggest that maxillary LeFort I advancement increases the risk of velopharyngeal dysfunction in the cleft palate population, yet few studies have investigated changes in speech following LeFort III or monobloc midface advancement in patients with syndromic craniosynostosis. The purpose of this study was to examine the effect of midface DO on speech as indicated by the Pittsburgh Weighted Speech Score in patients with Apert, Crouzon, and Pfeiffer Syndrome. Among 73 midface advancement cases performed during the study period, 19 cases met inclusion criteria. Overall, the highest post-advancement Pittsburgh Weighted Speech Score (PWSS) was significantly higher than the pre-advancement PWSS (0.52 versus 2.42, P = 0.01), indicating an acute worsening of VPI post-advancement. Specifically, the PWSS components nasal emission and nasality were significantly higher post-advancement than pre-advancement (nasal emission: 1.16 versus 0.21, P = 0.02) (nasality: 0.68 versus 0.05, P = 0.04). However, there was no significant difference between pre-advancement PWSS and the latest post-advancement PWSS (P = 0.31). Midface distraction is associated with an acute worsening of VPI post-operatively that is followed by improvement, and often resolution over time. Future work with additional patient accrual is needed to determine the effect of different advancement procedures and syndromes on VPI rates and profundity.

Simultaneous Midface Advancement and Orthognathic Surgery: A Powerful Technique for Managing Midface Hypoplasia and Malocclusion.

Midface hypoplasia dramatically affects the normative facial cascade. Simultaneous Le Fort III and Le Fort I procedures (Le Fort III/I) provide a powerful tool for achieving significant midface advancement. This study presents the authors' approach for addressing midface hypoplasia in the setting of class III malocclusion using Le Fort III/I advancement. This was an institutional review board-approved retrospective review of patients who underwent Le Fort III/I advancement at the authors' institution from 2009 to 2019. Demographic, surgical, and postoperative data were recorded. The authors' operative technique and surgical pearls are described. Twenty-five patients met inclusion criteria, 15 male patients (60 percent) and 10 female patients (40 percent). Patient age ranged from 14.9 to 21.6 years. Diagnoses included Crouzon syndrome, nonsyndromic developmental skeletal dysplasia, cleft lip/palate, Klippel-Feil syndrome, Apert syndrome, Van den Ende-Gupta syndrome, and Pfeiffer syndrome. Le Fort III advancements averaged 6.18 ± 1.38 mm and Le Fort I advancements averaged 6.70 ± 2.48 mm. Thirteen patients underwent simultaneous bilateral sagittal split osteotomy with average movement of 5.85 ± 1.21 mm. Average follow-up was 1.3 ± 1.0 years. One patient experienced intraoperative cerebrospinal fluid leak that resolved with expectant management. Three patients experienced major complications (12 percent) postoperatively necessitating repeated orthognathic operations. Ten patients experienced minor complications (40 percent). Average length of stay was 10 days, with all patients achieving improvement of their facial profile. The authors' experience reaffirms the relative safety of simultaneous Le Fort III/I advancement. This technique should be considered in select patients with global midface retrusion and class III malocclusion. Therapeutic, IV.

Cleidocranial Dysplasia: Management of the Multiple Craniofacial and Skeletal Anomalies.

Cleidocranial dysplasia (CCD) is a rare autosomal dominant disorder caused by mutations in the Runx2 gene. The CCD is characterized by frontal bossing, a patent anterior fontanelle, presence of Wormian bones, midface hypoplasia, multiple dental abnormalities, clavicular hypoplasia or aplasia, skeletal abnormalities, and short stature. The aims of this study are to report the phenotypic manifestations of all patients who presented with CCD and to review the multidisciplinary management of these patients. The longitudinal data of patients with a diagnosis of CCD treated at The Australian Craniofacial Unit from 1980 to 2019 were reviewed. Fourteen patients were identified for inclusion in this study. The age at referral to the unit ranged from 1 week old to 49 years old (mean 11.2 years old). All patients had clinical features of frontal bossing, a patent anterior fontanelle, multiple Wormian bones, midface hypoplasia, abnormal dentition, clavicular hypoplasia/aplasia, and normal intellect. Eleven patients had obstructive sleep apnea. Eight patients had positive family history. Speech issues were found in 6 patients and abnormal hearing was found in 4 patients. Seven patients who underwent skeletal survey were found to have skeletal abnormalities. All patients were evaluated and managed by the multidisciplinary team, which consisted of craniofacial surgeons, pediatric dentists, orthodontists, ENT surgeons, pediatricians, clinical geneticists, radiologists, orthopedic surgeons, and social workers. All patients were treated by dentists/orthodontists requiring multiple surgical interventions and orthodontic treatment. Seven patients who had recurrent ear infection underwent ventilation tube insertion. Seven of 11 patients who had obstructive sleep apnea underwent adenotonsillectomy. Four patients underwent orthognathic surgery to correct midface hypoplasia and malocclusion. Two patients had cranioplasty for correction of metopic depressions. The characteristic findings of patients with CCD involving multiple regions of the body should draw clinicians' attention to the need for multidisciplinary management of these patients.

Pregnancy management in a patient with stickler syndrome

BackgroundStickler syndrome is a collagen disorder that can affect multiple organ systems. It is characterized by ocular abnormalities, hearing loss, midfacial hypoplasia, hypermobility, and joint abnormalities. The phenotypic expression of Stickler syndrome can vary among those affected. Since Stickler syndrome is a collagen disorder, it is possible to expect pregnancy complications similar to those reported in other collagen disorders. To our knowledge, there is only one case report in the literature on the management of pregnancy and delivery of a patient with Stickler syndrome.Methods/Case ReportA 37‐year‐old primigravid woman with a diagnosis of Stickler syndrome presented at 9 weeks gestation for prenatal genetic consultation. At 26, the patient had prophylactic laser therapy for lattice degeneration of the retina. At 32, she was found to be heterozygous for the c.1527 G>T variant in the COL2A1 gene, which is associated with ocular abnormalities and autosomal dominant form of Stickler syndrome. Subsequently, she desired to pursue prenatal diagnostic testing for the familial variant. The patient voiced that the results would impact pregnancy management. Amniocentesis was performed at 16 weeks gestation. Results were negative for the maternal COL2A1 variant. Karyotype was normal (46, XX).ResultsA multidisciplinary team using a patient‐centered approach including obstetrics, ophthalmology, maternal‐fetal medicine, and genetics determined that there were no contraindications for vaginal delivery. At 39 weeks, the patient underwent spontaneous vaginal delivery with no complications.ConclusionThere is a paucity of data available regarding the maternal outcomes of women affected with collagen disorders, especially Stickler Syndrome. This case highlights the importance of accurate genetic diagnosis in the prenatal period and provides information to physicians caring for patients with Stickler syndrome.

Health Supervision for People With Achondroplasia.

Achondroplasia is the most common short-stature skeletal dysplasia, additionally marked by rhizomelia, macrocephaly, midface hypoplasia, and normal cognition. Potential medical complications associated with achondroplasia include lower extremity long bone bowing, middle-ear dysfunction, obstructive sleep apnea, and, more rarely, cervicomedullary compression, hydrocephalus, thoracolumbar kyphosis, and central sleep apnea. This is the second revision to the original 1995 health supervision guidance from the American Academy of Pediatrics for caring for patients with achondroplasia. Although many of the previously published recommendations remain appropriate for contemporary medical care, this document highlights interval advancements in the clinical methods available to monitor for complications associated with achondroplasia. This document is intended to provide guidance for health care providers to help identify individual patients at high risk of developing serious sequelae and to enable intervention before complications develop.