منابع مشابه
short rib polydactyly syndrome
short rib polydactyly syndrome (srps) is a very rare congenital anomaly that is classified into four subtypes. it is an autosomal recessive inherited disease. we report a case of this syndrome without a previous family history of congenital defects.
متن کاملShort rib-polydactyly syndrome: a case report.
Short rib-polydactyly syndrome (SRPS) is a group of rare, lethal skeletal dysplasias characterized by short ribs and limbs, polydactyly, hypoplastic thorax and visceral anomalies. Our case had coarsening of facial features, low-set ears, lobulated tongue, cleft palate, and hypoplastic epiglottis. Short proximal parts of upper limbs, bilateral postaxial polydactyly of hands, and bifid big toe wi...
متن کاملShort rib polydactyly syndrome type I (Saldino-Noonan syndrome).
A full term female newborn, weighing 2 Kg, was born with severe shortening of limbs with bilateral postaxial polydactyly. Chest was very narrow. There was polysyndactyly of right and left toe (Fig. 1) and anthropometry revealed a length of 40 cms, upper segment 28 cm, arm span 35 cm and chest circumference 21 cm. The neonate had respiratory distress since birth and died after 5 hrs. A clinical ...
متن کاملShort-rib polydactyly syndrome, Beemer-Langer type, with bilateral huge polycystic renal dysplasia: an autopsy case.
Short rib-polydactyly syndrome (SRPS) is a group of lethal skeletal dysplasia of an autosomal recessive inheritance characterized by markedly narrow ribs, micromelia, and multiple anomalies of major organs. We report a case of type IV SRPS with uncommon associations of polydactyly and bilateral polycystic kidneys, in a 28 week old female fetus. She was born dead to a 28 year old mother, showing...
متن کاملMutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome
The short rib polydactyly syndromes (SRPSs) are a heterogeneous group of autosomal recessive, perinatal lethal skeletal disorders characterized primarily by short, horizontal ribs, short limbs and polydactyly. Mutations in several genes affecting intraflagellar transport (IFT) cause SRPS but they do not account for all cases. Here we identify an additional SRPS gene and further unravel the func...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1989
ISSN: 1468-6244
DOI: 10.1136/jmg.26.5.346