Holoprosencephaly, bilateral cleft lip and palate and ectrodactyly: another case and follow up.
We describe a male patient with lobar holoprosencephaly, ectrodactyly, and cleft lip/palate, a syndrome which has been seen previously in only six patients. In addition, our patient developed hypernatraemia, which has been described in three patients before.
König
Rainer
R
Department of Human Genetics, Johann Wolfgang Goethe University, Frankfurt, Germany. r.koenig@uni-frankfurt.de
Beeg
Thomas
T
Tariverdian
Gholamali
G
Scheffer
Hans
H
Bitter
Klaus
K
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D002648:Child; D002971:Cleft Lip / Q000150:complications / Q000473:pathology*; D002972:Cleft Palate / Q000150:complications / Q000473:pathology*; D005385:Fingers / Q000002:abnormalities*; D005500:Follow-Up Studies; D005532:Foot Deformities, Congenital / Q000150:complications / Q000000981:diagnostic imaging; D006228:Hand Deformities, Congenital / Q000150:complications / Q000000981:diagnostic imaging; D016142:Holoprosencephaly / Q000150:complications / Q000000981:diagnostic imaging*; D006801:Humans; D006955:Hypernatremia / Q000150:complications; D007223:Infant; D008297:Male; D011859:Radiography