Overlap between Majewski and hydrolethalus syndromes: a report of two cases.
We present 2 unrelated fetuses with manifestations of both the hydrolethalus syndrome and the short rib-polydactyly syndrome, type Majewski. It is proposed that cases of hydrolethalus syndrome with short limbs constitute a separate type of lethal osteochondrodysplasia mimicking short rib-polydactyly syndromes.
Sharma
A K
AK
Department of Medical Genetics, Sanjay Gandhi Post-Graduate Institute of Medical Sciences, Lucknow, India.
Phadke
S
S
Chandra
K
K
Upreti
M
M
Khan
E M
EM
Naveed
M
M
Agarwal
S S
SS
D000328:Adult; D005260:Female; D005333:Fetus / Q000473:pathology; D006801:Humans; D006849:Hydrocephalus / Q000150:complications* / Q000235:genetics / Q000473:pathology; D010009:Osteochondrodysplasias / Q000235:genetics / Q000473:pathology; D010641:Phenotype; D011247:Pregnancy; D012779:Short Rib-Polydactyly Syndrome / Q000150:complications* / Q000235:genetics / Q000473:pathology; D013577:Syndrome