A lethal multiple pterygium syndrome with apparent X-linked recessive inheritance.
We describe three male fetuses with a lethal multiple pterygium syndrome (LMPS). The family was ascertained when the first pregnancy of healthy, unrelated Scottish parents ended with a miscarriage at 23 weeks gestation. The macerated male fetus had a cystic hygroma, cleft palate, and webbing of the neck, elbows, and thighs. Radiographs showed lack of modeling of long bones, with broad ribs and clavicles, hypoplastic radii and ulnae, abnormal jaw angle, and dislocated femoral heads. Two other fetuses with similar anomalies were born to a first cousin of the propositus. These three male fetuses with a similar lethal multiple pterygium syndrome born to mothers who are second-degree relatives through the female line suggest X-linked recessive inheritance of LMPS in this family.
Tolmie
J L
JL
Duncan Guthrie Institute of Medical Genetics, Royal Hospital for Sick Children, Yorkhill, Glasgow, Scotland.
Patrick
A
A
Yates
J R
JR
D000028:Abortion, Induced; D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D003560:Cysts / Q000000981:diagnostic imaging; D005260:Female; D005333:Fetus / Q000000981:diagnostic imaging; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011625:Pterygium / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography; D013577:Syndrome; D014960:X Chromosome