Biomaterial Database

[Hypertelorism-hypospadias (BBB) syndrome. 2 additional family studies]. 1990

M Krause, and P Meinecke, and M Krins, and W Grote

Abteilung Humangenetik, Christian-Albrechts-Universität, Kiel.

We report on two unrelated families with the hypertelorism-hypospadias (BBB-) syndrome. The male index patients, 3 and 10 months old, respectively, have ocular hypertelorism, cleft lip and palate, high and broad nasal bridge and hypospadias. The patients' mothers, maternal grandmothers and one patient's sister show hypertelorism. In addition, we summarize the characteristics of previously published cases.

UI	MeSH Term	Description	Entries
D006972	Hypertelorism	Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid.	Hypertelorisms
D007021	Hypospadias	A birth defect due to malformation of the URETHRA in which the urethral opening is below its normal location. In the male, the malformed urethra generally opens on the ventral surface of the PENIS or on the PERINEUM. In the female, the malformed urethral opening is in the VAGINA.	Hypospadia
D007223	Infant	A child between 1 and 23 months of age.	Infants
D007621	Karyotyping	Mapping of the KARYOTYPE of a cell.	Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D008297	Male		Males
D001848	Bone Diseases, Developmental	Diseases resulting in abnormal GROWTH or abnormal MORPHOGENESIS of BONES.	Bone Dysplasias,Developmental Bone Disease,Bone Disease, Developmental,Bone Dysplasia,Developmental Bone Diseases,Dysplasia, Bone,Dysplasias, Bone
D002971	Cleft Lip	Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region.	Harelip,Cleft Lips,Harelips,Lip, Cleft,Lips, Cleft
D002972	Cleft Palate	Congenital fissure of the soft and/or hard palate, due to faulty fusion.	Cleft Palate, Isolated,Cleft Palates,Palate, Cleft,Palates, Cleft
D003937	Diagnosis, Differential	Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures.	Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man