Lethal micromelic short-rib skeletal dysplasia with triangular-shaped humerus.
We report two brothers with a new type of lethal, micromelic, short-rib, skeletal dysplasia characterised by short limbs with distinctive triangular-shaped humeri. This condition is most likely caused by either an autosomal recessive or X-linked recessive gene.
Slaney
S F
SF
Department of Radiology, Great Ormond Street Hospital for Children, Great Ormond Street, London WC1N 3JH, UK.
Sprigg
A
A
Davies
N P
NP
Hall
C M
CM
D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics*; D005313:Fetal Death; D005808:Genes, Recessive; D006801:Humans; D006811:Humerus / Q000002:abnormalities*; D007231:Infant, Newborn; D008297:Male; D011859:Radiography; D012779:Short Rib-Polydactyly Syndrome / Q000235:genetics; D013577:Syndrome