Two new cases of Cumming syndrome confirming autosomal recessive inheritance.
We report on two stillborn sisters with generalized hydrops, campomelia, cervical lymphocele, and polycystic dysplasia of kidney, liver, and pancreas. This syndrome conforms to that first described by Cumming et al. [Am. J. Med. Genet. 25:783-790, 1986]. This observation provides additional support for the notion that this syndrome has an autosomal recessive pattern of inheritance.
Department of Pathology, Central Hospital, University of Oviedo, Asturias, Spain.
M J
MJ
Pérez del Río
J
J
Fernández-Toral
B
B
Madrigal
M
M
González-González
P
P
Ablanedo
A
A
Herrero
D000015:Abnormalities, Multiple / Q000235:genetics*; D005260:Female; D005313:Fetal Death; D005808:Genes, Recessive; D006801:Humans; D015160:Hydrops Fetalis / Q000235:genetics; D007668:Kidney / Q000002:abnormalities; D017880:Limb Deformities, Congenital / Q000235:genetics; D008099:Liver / Q000002:abnormalities / Q000033:anatomy & histology; D010179:Pancreas / Q000002:abnormalities / Q000033:anatomy & histology; D011247:Pregnancy; D013577:Syndrome