1/6. Brachyphalangy, feet polydactyly, absent/hypoplastic tibiae: a further case and review of main diagnostic findings.In 1997, Baraitser et al. (Clin Dysmorphol 6:111-121) described a patient with a complex phenotype characterized by facial dysmorphism, micropenis, brachydactyly, pre-axial polydactyly of the feet and tibial aplasia. We report here a patient with similar features.- - - - - - - - - - ranking = 1keywords = brachydactyly (Clic here for more details about this article) |
2/6. Hypothalamic hamartoma, cerebellar hypoplasia, facial dysmorphism and very atypical combination of polydactyly: is it a new variant of oro-facio-digital syndrome?We describe a newborn with multiple congenital anomalies consistent with an oro-facio-digital syndrome (OFDS). These are a group of inherited syndromes that have in common anomalies of the tongue (bifid or lobulated tongue with hamartomas), the face (median cleft lip) and the digits (brachydactyly, polydactyly, clinodactyly and/or syndactyly). OFDS has been classified into 11 types. The case described in this paper had manifestations overlapping with OFDS II (Mohr) and OFDS IV (Mohr-Majewski) and OFDS VI (Varadi). We propose that the present patient has a new variation of the OFDS due to the co-existence of the very atypical combination of polydactyly, cerebellar hypoplasia, hypothalamic hamartoma and classical facial findings of OFDS.- - - - - - - - - - ranking = 1keywords = brachydactyly (Clic here for more details about this article) |
3/6. polydactyly in a boy with smith-magenis syndrome.smith-magenis syndrome is a microdeletion syndrome involving chromosome 17p11.2. The characteristic features include mental retardation, dysmorphic facial features, minor skeletal anomalies including brachydactyly and behavioural abnormalities, such as disturbed sleep pattern, restlessness and self-destructive behaviour. We present a patient with this syndrome and with six digits on each hand. polydactyly has not yet been described in smith-magenis syndrome as far as we know.- - - - - - - - - - ranking = 1keywords = brachydactyly (Clic here for more details about this article) |
4/6. A new surgical method for treating lateral ray polydactyly with brachydactyly of the foot: lengthening the reconstructed fifth toe.Lateral ray polydactyly is the most common anomaly of the foot. However, when both the fifth and sixth toes are markedly shorter than a normal toe, reconstruction of a normal-length fifth toe has not been performed, because the toe rarely serves a functional purpose. The authors devised a new method whereby the fifth toe could be lengthened using the excess toe as a composite flap. Fifteen patients (15 toes) underwent our procedures and were evaluated in this study. The stepladder island flap is used. The decision as to which toe to use as the flap was made preoperatively based on nail size, and its morphologic and radiographic conditions. Stepladder incision lines were designed on the dorsal and plantar sides of the duplication. Care was taken to preserve the neurovascular bundle with the subcutaneous pedicle and osteotomies were made at the middle phalanx of the flap and the distal or middle phalanx of the recipient in almost all cases. The elevated composite toe flap was advanced and the bone was fixed rigidly for 1-2 months after the operation. During our follow-up periods, the reconstructed toes grew normally, and good aesthetic results had been achieved apart from the bulkiness of the reconstructed toes. There was no deficiency in circulation or function for walking, running, or shoe-fitting in this series.- - - - - - - - - - ranking = 4keywords = brachydactyly (Clic here for more details about this article) |
5/6. Triphalangeal thumb and brachyectrodactyly syndrome: an uncommon entity with evidence of geographic distribution.A new Mexican family with the triphalangeal thumb-brachyectrodactyly syndrome is described. The proposita, a 17-year-old female, showed the classic malformation pattern: triphalangeal thumb, brachysyndactyly in the hands and ectrodactyly in the feet. Several members of the family had similar malformations, and others presented minor manifestations of the disease (brachydactyly and nail dysplasia). This is the fourth familial case reported in the literature with the triphalangeal thumb and brachyectrodactyly complex and the third of Mexican origin, reflecting a geographical predominance in the occurrence of this uncommon pathology.- - - - - - - - - - ranking = 1keywords = brachydactyly (Clic here for more details about this article) |
6/6. Grebe syndrome: clinical and radiographic findings in affected individuals and heterozygous carriers.Grebe syndrome is a recessively inherited acromesomelic dysplasia. We studied, clinically and radiographically, 10 affected individuals, originating from Bahia, brazil. The phenotype is characterized by a normal axial skeleton and severely shortened and deformed limbs, with a proximo-distal gradient of severity. The humeri and femora were relatively normal, the radii/ulnae and tibiae/fibulae were short and deformed, carpal and tarsal bones were fused, and several metacarpal and metatarsal bones were absent. The proximal and middle phalanges of the fingers and toes were invariably absent, while the distal phalanges were present. Postaxial polydactyly was found in several affected individuals. Several joints of the carpus, tarsus, hand, and foot were absent. Heterozygotes presented with a variety of skeletal manifestations including polydactyly, brachydactyly, hallux valgus, and metatarsus adductus. Grebe syndrome is caused by a missense mutation in the gene encoding cartilage-derived morphogenetic protein-1.- - - - - - - - - - ranking = 1keywords = brachydactyly (Clic here for more details about this article) |