[HTML][HTML] Short rib-polydactyly syndrome type II (Majewski): prenatal diagnosis, perinatal imaging findings and molecular analysis of the NEK1 gene
CP Chen, TY Chang, CY Chen, TY Wang… - Taiwanese Journal of …, 2012 - Elsevier
OBJECTIVE: To demonstrate perinatal imaging findings and to investigate the mutation in
the NEK1 gene in a fetus with type II short rib-polydactyly syndrome (SRPS)(Majewski) …
the NEK1 gene in a fetus with type II short rib-polydactyly syndrome (SRPS)(Majewski) …
[图书][B] Fetal and perinatal skeletal dysplasias: an atlas of multimodality imaging
CM Hall, AC Offiah, F Forzano, M Lituania, M Fink… - 2012 - taylorfrancis.com
Skeletal dysplasias are rare, they may be genetic, sporadic or environmentally determined
conditions, affecting bone and cartilage growth and development. The genetic mutations …
conditions, affecting bone and cartilage growth and development. The genetic mutations …
Whole exome sequencing, clinical exome or targeted gene panels: What to choose for suspected lethal skeletal dysplasia (short rib thoracic dysplasia type IV)
Lethal skeletal dysplasias (SDs) are a heterogeneous group of rare but important genetic
disorders characterised by abnormal growth and development of bone and cartilage. The …
disorders characterised by abnormal growth and development of bone and cartilage. The …
Autopsy Observations in Lethal Short-Rib Polydactyly Syndromes
P Okiro, H Wainwright, J Spranger… - Pediatric and …, 2015 - journals.sagepub.com
The short rib-polydactyly syndromes are a heterogeneous group of lethal autosomal
recessive disorders (SRP I–IV), which result from cellular ciliary dysfunction during …
recessive disorders (SRP I–IV), which result from cellular ciliary dysfunction during …
SPOT DIAGNOSIS (IMAGE GALLERY)
SORRI pOlyDaCtyly SyNDROmE, S Kumar, S Wazir - pediatriconcall.com
A one day old male new-born presented with in-drawing of chest, bulged-out skin bereft
lesion in left lower chest-wall, polysyndactyly in all for limbs. Chest x-ray showed the …
lesion in left lower chest-wall, polysyndactyly in all for limbs. Chest x-ray showed the …
Short rib polydactyly syndrome type III
R Chakrabarti, M Balde, S Kumar, S Wazir - pediatriconcall.com
Discussion: Short-rib-polydactyly-syndrome type III {SRPS3}, which is also called Verma-
Naumoff syndrome. It is a very rare syndrome characterised by short ribs, various …
Naumoff syndrome. It is a very rare syndrome characterised by short ribs, various …