Lethal Pena-Shokeir 1 syndrome in three male siblings.
A consanguineous family with no living children and three male siblings with Pena-Shokeir 1 syndrome is described. Two children died antepartum and the third shortly after delivery. The importance of early prenatal diagnosis, appropriate counseling and thorough evaluation of the neuromuscular system is discussed.
Gyr
T
T
Department of Obstetrics and Gynecology, University Hospital Bern, Switzerland.
Katz
M
M
Altermatt
H J
HJ
Braga
S
S
Duerig
P
P
Koenig
C
C
Schneider
H
H
D000015:Abnormalities, Multiple / Q000235:genetics*; D009008:Abnormalities, Severe Teratoid / Q000235:genetics*; D000328:Adult; D003241:Consanguinity; D005260:Female; D005313:Fetal Death / Q000235:genetics*; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D012008:Recurrence; D013577:Syndrome