title: The male phenotype in osteopathia striata congenita with cranial sclerosis.
abstract: Osteopathia striata with cranial sclerosis (OSCS) is an X-linked disease caused by truncating mutations in WTX. Females exhibit sclerotic striations on the long bones, cranial sclerosis, and craniofacial dysmorphism. Males with OSCS have significant skeletal sclerosis, do not have striations but do display a more severe phenotype commonly associated with gross structural malformations, patterning defects, and significant pre- and postnatal lethality. The recent description of mutations in WTX underlying OSCS has led to the identification of a milder, survivable phenotype in males. Individuals with this presentation can have, in addition to skeletal sclerosis, Hirschsprung disease, joint contractures, cardiomyopathy, and neuromuscular anomalies. A diagnosis of OSCS should be considered in males with macrocephaly, skeletal sclerosis that is most marked in the cranium and the absence of metaphyseal striations. The observation of striations in males may be indicative of a WTX mutation in a mosaic state supporting the contention that this sign in females is indicative of the differential lyonization of cells in the osteoblastic lineage.
authors: Department of Paediatrics, Dunedin School of Medicine, Otago University, New Zealand.
authors: Sarah K
authors: SK
authors: Holman
authors: Phil
authors: P
authors: Daniel
authors: Zandra A
authors: ZA
authors: Jenkins
authors: Rachel L
authors: RL
authors: Herron
authors: Tim
authors: T
authors: Morgan
authors: Ravi
authors: R
authors: Savarirayan
authors: C W
authors: CW
authors: Chow
authors: Axel
authors: A
authors: Bohring
authors: Annette
authors: A
authors: Mosel
authors: Didier
authors: D
authors: Lacombe
authors: Bernhard
authors: B
authors: Steiner
authors: Thomas
authors: T
authors: Schmitt-Mechelke
authors: Barbara
authors: B
authors: Schroter
authors: Annick
authors: A
authors: Raas-Rothschild
authors: Sixto Garcia
authors: SG
authors: Miñaur
authors: Mary
authors: M
authors: Porteous
authors: Michael
authors: M
authors: Parker
authors: Oliver
authors: O
authors: Quarrell
authors: Dagmar
authors: D
authors: Tapon
authors: Valérie
authors: V
authors: Cormier-Daire
authors: Sahar
authors: S
authors: Mansour
authors: Ruth
authors: R
authors: Nash
authors: Laurence A
authors: LA
authors: Bindoff
authors: Torunn
authors: T
authors: Fiskerstrand
authors: Stephen P
authors: SP
authors: Robertson
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D001842:Bone and Bones / Q000473:pathology; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000235:genetics; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008156:Luciferases; D008297:Male; D058627:Megalencephaly / Q000473:pathology; D010026:Osteosclerosis / Q000235:genetics / Q000473:pathology*; D010641:Phenotype; D025521:Tumor Suppressor Proteins / Q000235:genetics
chemical_list: C517118:AMER1 protein, human; D048868:Adaptor Proteins, Signal Transducing; D017931:DNA Primers; D025521:Tumor Suppressor Proteins; D008156:Luciferases