Polydactyly Of Foot Research Articles

The Prenatal Ultrasound Diagnosis and Perinatal Outcome of Polydactyly: A Retrospective Cohort Study, 2016-2023.

To determine the significance of polydactyly identified on prenatal ultrasonography and provide a detailed analysis of characteristics and perinatal outcomes of fetal polydactyly. This is a retrospective cohort study of pregnancies with a postnatal diagnosis of fetal polydactyly between January 2016 and December 2023. The population was divided into 2 groups at postnatal diagnosis: the isolated polydactyly group and the nonisolated polydactyly group. Clinical data, prenatal ultrasonography, related genetic results, and postnatal outcomes were obtained. Our study cohort comprised 328 fetuses with polydactyly. The overall detection rate of polydactyly by prenatal ultrasound was 19.2%, and the first detection rate in the first-, second-, and third-trimester were 0.9%, 14.6%, and 3.7%, respectively. Preaxial polydactyly (PPD) of hand was the most common type and the most common type of foot polydactyly was postaxial polydactyly (PAP) both in the isolated group and in the nonisolated group; the central polydactyly is rare. Syndactyly was the most common abnormality complicated with polydactyly. Between the nonpolydactyly group, the isolatedpolydactyly group and the nonisolated polydactyly group, there was a significant difference in perinatal outcome (P < .001). The second trimester is the best gestational age for prenatal ultrasound detection of polydactyly. Polydactyly of hand was more likely PPD, while polydactyly of foot was more likely PAP. When polydactyly is detected by routine prenatal ultrasound, detailed ultrasound examination and prenatal counseling should be performed to determine the possibility of an underlying genetic syndrome.

A case of Laurence Moon Bardet Biedl syndrome

Laurence Moon Bardet Biedl syndrome (LMBBS) is a rare autosomal recessive disorder characterized by retinitis pigmentosa, obesity, hypogonadism, mental retardation and polydactyly. We present a case of 20-year-old male with history of intellectual delay, speech impairment and progressive vision loss. Presented with chief complaints of Breathlessness, oliguria, abdominal distension. Upon examination he is morbidly obese, short stature, pedal edema, facial puffiness, polydactyly of feet, micro penis and retinitis pigmentosa. He presented with primary pentad features of LMBBS with CKD stage 5 for which he was started on hemodialysis. He also had secondary features of speech delay, developmental delay, dental crowding, high arched palate and ventricular hypertrophy. Management of LMBBS is supportive. genetic counselling of affected families raises awareness about need to get the other family members assessed for renal and cardiovascular problems.

Midterm and Long-term Follow-up After Surgical Reconstruction for Lateral Polydactyly of the Foot With Mosaic-like Alignment of the Phalanx Bones.

The phalanx bones in several cases of lateral polydactyly of foot revealed complicated alignment with radiographic findings revealing medial-protrusion and lateral deviation of the middle phalanx. We previously defined such cases as showing "mosaic-like alignment" and demonstrated favorable postoperative outcomes using our surgical procedure. The aim of this study was to evaluate the midterm and long-term postoperative outcomes in such cases. The study included 17 feet from 16 patients; 5 male and 11 female, with one bilateral case. The radiographic findings in all cases revealed a mosaic-like alignment of phalanges. Average age of the patients at the initial surgery was 12 months and average duration of post-operative follow-up was 89 months (60 to 132 mo). The surgical procedures were focused on the alignment between the distal and proximal phalanges independent of the middle phalanx alignment. Ligamentous joint stability was restored using collateral ligament reconstruction. We retrospectively evaluated post-operative outcomes, and subjective evaluation by the patients and parents was carried out. No cases revealed either varus or valgus deformities, pigmentation of the grafted skin, or functional disturbance. As for postoperative complications, we observed visible thickening in 7 toes, 3 of which further underwent partial resection of the middle phalanx. Subjective evaluation of the postoperative results by the patients and parents was "very satisfied" or "satisfied" in 15 of 16 cases. On the basis of our midterm to long-term postoperative outcomes, we believe that our method of surgical reconstruction provides a new option for the treatment of lateral polydactyly of the foot with mosaic-like alignment of the phalanx bones. Level IV-therapeutic studies.

Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome

Mutations in CPLANE1 (previously known as C5orf42) cause Oral-Facial-Digital Syndrome type VI (OFD6) as well as milder Joubert syndrome (JS) phenotypes. Seven new cases from five unrelated families diagnosed with pure OFD6 were systematically examined. Based on the clinical manifestations of these patients and those described in the literature, we revised the diagnostic features of OFD6 and include the seven most common characteristics: 1) molar tooth sign, 2) tongue hamartoma and/or lobulated tongue, 3) additional frenula, 4) mesoaxial polydactyly of hands, 5) preaxial polydactyly of feet, 6) syndactyly and/or bifid toe, and 7) hypothalamic hamartoma. By whole or targeted exome sequencing, we identified seven novel germline recessive mutations in CPLANE1, including missense, nonsense, frameshift and canonical splice site variants, all causing OFD6 in these patients. Since CPLANE1 is also mutated in JS patients, we examined whether a genotype-phenotype correlation could be established. We gathered and compared 46 biallelic CPLANE1 mutations reported in 32 JS and 26 OFD6 patients. Since no clear correlation between paired genotypes and clinical outcomes could be determined, we concluded that patient's genetic background and gene modifiers may modify the penetrance and expressivity of CPLANE1 causal alleles. To conclude, our study provides a comprehensive view of the phenotypic range, the genetic basis and genotype-phenotype association in OFD6 and JS. The updated phenotype scoring system together with the identification of new CPLANE1 mutations will help clinicians and geneticists reach a more accurate diagnosis for JS-related disorders.

Preaxial Polydactyly of Foot, Report of a Rare Case

Introduction: Polydactyly is the most common congenital anomaly of the forefoot. It can be isolated or associated with established genetic syndromes. Case Presentation: We presented a rare preaxial (medial) polydactyly of the foot. Because our patient reached maturity (24 years old), detailed bony anatomy of the forefoot could be evaluated. Radiographic examination showed a widened navicular bone, fusion of the first cuneiform with the first metatarsal, fusion of phalanges of the first ray, articulation of the second cuneiform with the second and third metatarsal, and cuboid with the fourth and the fifth ray. The first ray disarticulation was performed from the naviculocuneiform joint. Operation result was excellent according to published protocols. Conclusions: According to the Watanabe classification, our case was a tarsal medial (preaxial) foot polydactyly.

An unusual case of mixed polydactyly of foot

A common congenital anomaly, polydactyly refers to supernumerary digits of the hand or foot, the incidence of which varies widely according to race, geographical location, familial syndromes and other environmental factors. The foot tends to be more rarely involved than the hand. These images depict a 60-year-old Hindu male with polydactyly of the right foot since birth. Digital radiography of the right foot showed a combination of Y-shaped metatarsal, T-shaped metatarsal, block metatarsal and duplicated rays. There was no sign or symptom of a syndromic anomaly. The disorder appeared to be purely sporadic in nature. The patient displayed unilateral polydactyly with eight digits that included a combination of Yshaped metatarsal, T-shaped metatarsal, block metatarsal and duplicated rays; this is an uncommon presentation. Polydactyly of the foot is a rare disorder which may present sporadically, or in conjunction with familial syndromes; hence, accurate, genetic diagnosis is essential for proper management. Thorough preoperative radiological and anatomical evaluation is mandatory for effective reconstruction of the digit.

Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature

Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945) is a rare congenital disorder. Only seven patients have been reported to date, and the etiology of this syndrome is unknown. Autosomal dominant inheritance with variable expression has been suggested based on the presence of minor features in some parents and the fact that neither parental consanguinity nor pairs of affected siblings were observed. We report on the first patient with this syndrome who was born to consanguineous parents. Neither the mother nor the father, who were first cousins, had clinical features suggestive of a manifestation of brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome. The patient had no siblings, and the family history was unremarkable. Clinical problems included brachydactyly of hands and feet, splaying of fingers and toes, preaxial polydactyly of feet, bilateral tibial aplasia, shortened radius and ulna, and characteristic facial dysmorphic signs. The detailed description of this patient adds to our knowledge of the clinical manifestations of brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome and will eventually also contribute to the elucidation of the underlying gene defects.

Mirror foot and our surgical experience: A case report and literature review

Preaxial mirror polydactyly of foot is a rare congenital anomaly with even fewer documentations for definitive treatment. To provide a sensate, near normal foot with ability to wear shoes is difficult to achieve in this variant with fibular dimelia and calcaneal duplication, with a delayed presentation at 6 years. Our case obtained satisfactory cosmetic and functional outcome upon excision of accessory calcaneum and the medial three toes along with covering the defect with local full thickness skin flap: a first of its kind mentioned in literature. We report this case because of its rarity and to share our surgical experience and its acceptable outcome.

Two cases of complete polymetatarsia without polydactyly

We report two patients exhibiting complete polymetatarsia between the fourth and fifth metatarsals of the right foot, without supernumerary digit. To our knowledge, only a few cases of polymetatarsia without supernumerary digit have been reported, and all of those cases have involved incomplete duplication. Although there were no externally visible deformities in the present cases, plain radiographs revealed an extra bone between the fourth and fifth metatarsals. Case 1 presented with pain between the fourth and fifth metatarsals, and this pain ceased after resection of the extra metatarsal. Although case 2 was asymptomatic, the extra metatarsal of the left foot was resected during surgery for postaxial polydactyly of the right foot. Although differential diagnosis with os intermetatarseum was problematic, we concluded that the extra bones in the present cases were duplicated metatarsals, rather than accessory bones, based on three clinical findings: configuration of the extra metatarsal (articular cartilage and growth plate), in case 1; location of extra metatarsal (the most common site of polydactyly of the foot), in both cases; and polydactyly of the opposite foot, in case 2.

Oral-facial-digital syndrome with Y-shaped fourth metacarpals and endocardial cushion defect

We report on a boy with pseudo-cleft of the upper lip, cleft palate, bifid uvula, lobulated tongue, hypoplasia of the epiglottis, both preaxial and central polydactyly of the hands (Y-shaped fourth metacarpals), bilateral preaxial polydactyly of the feet, postaxial polydactyly of the left foot, hearing impairment, and congenital heart disease with endocardial cushion defect. These clinical manifestations resembled oral-facial-digital syndrome type II (OFDS II, Mohr syndrome) or type VI (Váradi syndrome), associated with an atrioventricular canal. Clinical variability of OFDS II has been observed repeatedly. To the best of our knowledge, this is the first reported case of OFDS II with Y-shaped fourth metacarpals. In addition to Y-shaped fourth metacarpals, Mohr syndrome plus atrioventricular canal and hypoplasia of the epiglottis may represent an additional subgroup of OFDS.

Oral‐facial‐digital syndrome with Y‐shaped fourth metacarpals and endocardial cushion defect

We report on a boy with pseudo-cleft of the upper lip, cleft palate, bifid uvula, lobulated tongue, hypoplasia of the epiglottis, both preaxial and central polydactyly of the hands (Y-shaped fourth metacarpals), bilateral preaxial polydactyly of the feet, postaxial polydactyly of the left foot, hearing impairment, and congenital heart disease with endocardial cushion defect. These clinical manifestations resembled oral-facial-digital syndrome type II (OFDS II, Mohr syndrome) or type VI (Váradi syndrome), associated with an atrioventricular canal. Clinical variability of OFDS II has been observed repeatedly. To the best of our knowledge, this is the first reported case of OFDS II with Y-shaped fourth metacarpals. In addition to Y-shaped fourth metacarpals, Mohr syndrome plus atrioventricular canal and hypoplasia of the epiglottis may represent an additional subgroup of OFDS. Am. J. Med. Genet. 86: 278–281, 1999. © 1999 Wiley-Liss, Inc.

Prenatal diagnosis of Smith-Lemli-Opitz syndrome via an abnormal maternal serum screen

Smith-Lemli-Opitz (SLO) syndrome is an autosomal recessive disorder which results from a defect in cholesterol biosynthesis. The finding of elevated levels of cholesterol precursors is diagnostic of SLO. There have been few reported cases of the prenatal diagnosis of SLO in the presence of a non-contributory family history. Abnormal triple screen, sex discrepancy, and polydactyly led to such a diagnosis in this case.L.M. was a 29 year old G2 P1 ABO who presented at 17.1 weeks gestation due to a positive maternal serum triple screen which estimated a midtrimester risk for fetal trisomy 18 of 1/15. The triple screen was reported as follows: MSAFP 0.44 MOM; ESTRIOL 0.43 MOM; HCG 0.35 MOM at 16.1 weeks. The couple opted for amniocentesis which resulted in a normal 46,XY karyotype. Due to a suspicion of early IUGR, a repeat ultrasound examination was performed at 20.1 weeks gestation, revealing a discrepancy between observed fetal sex and karyotype, post-axial polydactyly of both feet and the left hand, and growth lag. A repeat amniocentesis was performed to confirm fetal sex. L.M. was counseled regarding the sonographic and biochemical evidence that was suggestive of SLO. She elected to terminate the pregnancy. Amniotic fluid analysis subsequently revealed that 7-dehydrocholesterol (7-DHC) was greater than 800-fold increased in comparison to control; conversion of ergosterol to brassicasterol (estimating 7-DHC reductase activity) was 0.5% in fetal fibroblasts (control 15-35%, n=2), verifying SLO. Features consistent with SLO reported on autopsy included ambiguous genitalia with micropenis, severe hypospadias, and bifid scrotum. There was left hand post-axial polydactyly, bilateral post-axial polydactyly of the feet, and partial syndactyly of the second and third toes bilaterally. Facial dysmorphia included a broad nasal tip and anteverted nares, broad maxillary alveolar ridges, with a high arched hard palate and a soft palate cleft.This case demonstrates a possible role for triple screen, particularly uE3 analysis, in the detection of fetuses at risk for SLO.

Case of Extensive Polydactyly of Foot

SummaryA case of extensive polydactyly of the foot is being reported because of its rarity. The result of surgery has been satisfactory from cosmetic and functional points of view. A comparison with similar cases reported in the literature is included.

Preaxial polydactyly of feet in infants of diabetic mothers: epidemiological test of a clinical hypothesis.

Using data from the Spanish Collaborative Study of Congenital Malformations (ECEMC), we tested the hypothesis of Carey et al. (Proc Greenwood Genet Cent 9:95, (1990) on maternal diabetes and preaxial polydactyly of feet in infants born to diabetic mothers. Our results seem to confirm their suggestion, although the hallucal type of preaxial polydactyly that they described seems to be much less frequent. Nevertheless, a high risk exists (OR = 24.60, P = 0.0004) for preaxial polydactyly of the feet in relation with other types of birth defects or postaxial polydactyly. This analysis shows the importance of clinical observations for epidemiologists, because such observations constitute hypotheses and provide actual issues for study, and clinicians will get epidemiological confirmation for their individual observations and hypotheses.

Clinical and Radiological Features of Chondroectodermal Dysplasia

This report documents the presence of chondroectodermal dysplasia in southwestern Saudi Arabia by describing the clinical and radiological features in three patients from two families. Mesomelic dwarfism, characteristic orodental manifestations, small thorax, nail hypoplasia and polydactyly of the hands were seen in all cases. Two patients had atrial septal defect; the third patient, who died, had an undefined cardiac anomaly with congestive heart failure. In addition to the typical radiological features, variations such as anterior scalloping of dor-solumbar vertebrae, syntarsaly and polydactyly of feet with separate unfused metatarsals were seen in one patient each. The combination of ectodermal and mesodermal anomalies permits early recognition of the sydnrome.

Lambotte syndrome: Microcephaly, holoprosencephaly, intrauterine growth retardation, facial anomalies, and early lethality—A new sublethal multiple congenital anomaly/mental retardation syndrome in four sibs

We report on an Arabic sibship originating from Morocco in which four children manifest an undiagnosed sublethal multiple congenital anomaly/mental retardation (MCA/MR) syndrome of intrauterine growth retardation (IUGR), microcephaly, large soft pinnae, telecanthus or true hypertelorism with squint, flat face, unusual hooked nose, very narrow mouth, retrognathia, and extremely severe neurologic impairment. One child was stillborn. Three others died in a cachectic state during their second year. One child had a severe cerebral malformation compatible with semilobar holoprosencephaly. Other inconstant manifestations are anterior chamber cleavage defect, preaxial polydactyly of feet, interventricular septal defect, and atresia of the external auditory meatus. Autosomal recessive inheritance is likely.

Carpenter Syndrome: Natural history and clinical spectrum

Recently, we evaluated three sibs with Carpenter syndrome, permitting further clinical, orthopedic, radiographic, and psychometric delineation of this disorder. All three patients were operated on for craniostenosis at or before 2 months. Although all had gross motor delay in early infancy, two had normal intelligence at 12 months and 10 years, respectively. Bony abnormalities contributed to functional impairment especially in the older children. Preaxial polydactyly of feet was present in all three affected sibs and in all other reported individuals with this condition, allowing differentiation of Carpenter syndrome from the other autosomal-recessive acrocephalopolysyndactyly syndromes.