Bilateral ulna hypoplasia, club feet, and mental retardation: a new mesomelic syndrome.
We report on 2 sibs with a previously unreported type of mesomelia of the upper limbs due to ulnar hypoplasia. Prenatal diagnosis was made by ultrasound during one pregnancy and an affected fetus was confirmed. This family documents a previously unreported autosomal recessive syndrome.
Kohn
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G
Institute of Human Genetics, Edith Wolfson Medical Center, Holon, Israel.
Malinger
G
G
el Shawwa
R
R
Scheinfeld
A
A
Tepper
R
R
Ornoy
A
A
Lachman
R
R
Rimoin
D L
DL
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D000028:Abortion, Induced; D001848:Bone Diseases, Developmental / Q000235:genetics; D003025:Clubfoot / Q000000981:diagnostic imaging / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D005269:Femur / Q000002:abnormalities; D005333:Fetus / Q000002:abnormalities; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009264:Nails, Malformed; D010375:Pedigree; D011247:Pregnancy; D011859:Radiography; D013577:Syndrome; D014457:Ulna / Q000002:abnormalities* / Q000000981:diagnostic imaging; D016216:Ultrasonography, Prenatal