A lethal short rib syndrome without polydactyly.
نویسندگان
چکیده
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 کاملLethal short rib-polydactyly syndromes: further evidence for their overlapping in a continuous spectrum.
We report two new unrelated infants with short rib-polydactyly syndrome (SRPS) whose clinical and radiological features overlap the four established forms of lethal SRPS, so that it is difficult to classify them into any one particular type. One of the babies had one of the most radiologically severe SRPS ever published. The patients presented here support the previously reported hypothesis tha...
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 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: Journal of Medical Genetics
سال: 1988
ISSN: 1468-6244
DOI: 10.1136/jmg.25.5.349