Mutation of FOP/FGFR1OP in mice recapitulates human short rib-polydactyly ciliopathy
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.
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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...
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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 ...
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Defects in cilia formation and function result in a range of human skeletal and visceral abnormalities. Mutations in several genes have been identified to cause a proportion of these disorders, some of which display genetic (locus) heterogeneity. Mouse models are valuable for dissecting the function of these genes, as well as for more detailed analysis of the underlying developmental defects. T...
متن کاملPrenatal Diagnosis of Short Rib-Polydactyly Type II by Ultrasound in Three Consecutive Pregnancies.
Short rib–polydactyly syndrome (SRPS) type II is a rare lethal form of skeletal dysplasia, characterized by polydactyly, short limbs, short and horizontal ribs, a small ovoid tibia and major organ anomalies [1]. Prenatal diagnosis by genetic testing is not available; ultrasound plays an important role. With no prior history usually these cases are detected late in pregnancy; postnatal examinati...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2018
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/ddy246