Gershoni-Baruch syndrome: report of a new family confirming autosomal recessive inheritance.
Gershoni-Baruch syndrome is a multiple congenital malformation complex characterized by omphalocele, diaphragmatic hernia, cardiovascular abnormalities, and radial ray defects. Autosomal recessive inheritance is suggested. We describe two additional cases from a single family (sister and brother) delivered through termination at 23 and 9 weeks of gestation, respectively. The first fetus showed a spectrum of schisis defects without any limb involvement while the second bore mainly malformations of hands and feet. The occurrence of two different syndromes in the same family is highly improbable, but, considering both malformation complexes as possible manifestations of the same disease, a diagnosis of Gershoni-Baruch syndrome appears the most reasonable. These new familial cases bring further support to the hypothesis of an autosomal recessive inheritance of this syndrome.
Franceschini
P
P
Dipartimento di Scienze Pediatriche e dell'Adolescenza, Servizio di Genetica Clinica, Università di Torino, Torino, Italy. piergiorgio.franceschini@unito.it
Guala
A
A
Licata
D
D
Botta
G
G
Flora
F
F
Angeli
G
G
Di Cara
G
G
Franceschini
D
D
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics; D006548:Hernia, Diaphragmatic / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D006554:Hernia, Umbilical / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011859:Radiography; D013577:Syndrome; D016216:Ultrasonography, Prenatal