Nonsyndromic Split-Hand/Foot Malformation: Recent Classification
نویسندگان
چکیده
منابع مشابه
Ectrodactyly/split hand feet malformation
Split-hand/split-foot malformation is a rare limb malformation with median clefts of the hands and feet and aplasia/hypoplasia of the phalanges, metacarpals and metatarsals. When present as an isolated anomaly, it is usually inherited as an autosomal dominant form. We report a case of autosomal recessive inheritance and discuss the antenatal diagnosis, genetic counseling and treatment for the m...
متن کاملSplit-hand/split-foot malformation associated with maternal valproate consumption.
Neurology India | June 2005 | Vol 53 | Issue 2 tions or consanguinity. Split-hand/split-foot malformation (SHFM) is a limb malformation involving the central rays of the autopod, presenting with syndactyly, median clefts in hand or foot and aplasia or hypoplasia of metacarpals or metatarsals. Failure to maintain median apical ectodermal ridge (AER) signaling is the main pathogenic mechanism for...
متن کاملSplit cord malformation type I distal to segmental myelomeningocele
The coexistence of myelomeningocele (MMC) and split cord malformation (SCM) is a well-known phenomenon. The SCM is usually above or at the level of the MMC. Split cord malformation distal to the MMC is considered to be the rarest form of such a combination. We report a case of SCM (type I) distal to the MMC diagnosed pre-operatively. Repair of the MMC and the SCM were carried out in the same se...
متن کاملLong segment composite split cord malformation with double bony spur
A composite type of SCM is very rare and only a few cases have been reported until today. The frequency of compositetype SCM is lower than 1% in the literature. In this report, we presented an unusual case of long segment composite type split cord malformation with double level bony spur with multiple associated bony anomalies.
متن کاملSplit hand/foot malformation syndrome (SHFM): rare congenital orthopaedic disorder.
A 17-year-old man, the third child of physically normal parents, was diagnosed with a case of cleft hand (lobster hand) in our outpatient department during a routine visit. He was born with deformed hands and feet in the form of syndactyly of thumb with the index finger in the upper limbs. He had a median cleft of the hands (figures 1–3). There was no facial dysmorphism in the patient. He had a...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Molecular Syndromology
سال: 2019
ISSN: 1661-8769,1661-8777
DOI: 10.1159/000502784