Familial short rib syndrome, type Beemer, with pyloric stenosis and short intestine, one case diagnosed prenatally.
Two sibs with Beemer type short rib syndrome, one of them diagnosed in utero, are reported. Both patients had previously unreported additional abnormalities such as pyloric stenosis and short bowels. Dysplasia of pancreatic Langerhans cells was present in one sib.
Balci
S
S
Hacettepe University, Department of Clinical Genetics, Ankara, Turkey.
Erçal
M D
MD
Onol
B
B
Cağlar
M
M
Doğan
A
A
Doğruel
N
N
D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003241:Consanguinity; D005260:Female; D005313:Fetal Death; D005808:Genes, Recessive / Q000235:genetics; D005817:Genetic Counseling; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis / Q000235:genetics; D007231:Infant, Newborn; D010375:Pedigree; D011296:Prenatal Diagnosis; D011707:Pyloric Stenosis / Q000175:diagnosis / Q000235:genetics*; D012779:Short Rib-Polydactyly Syndrome / Q000175:diagnosis / Q000235:genetics*