Biomaterial Database

Further delineation of the Beemer-Langer syndrome using concordance rates in affected sibs. 1994

I W Lurie

Department of Pediatrics, University of Maryland at Baltimore, School of Medicine.

Six familial cases of the Beemer-Langer syndrome (BLS) were analyzed to further elucidate the spectrum and frequency of anomalies observed in this disorder. Preaxial polydactyly was found in 3/6 affected sibs, and, therefore, its frequency previously may have been underestimated. Some patients, described as infants affected with the Majewski syndrome (MS) or "atypical" short rib-polydactyly conditions, may indeed have BLS. A high frequency of brain defects (16/26) and cleft tongue, oral frenula, and/or natal teeth (13/29) widens the list of typical findings in this syndrome. The specific type of tibial defect seems to be the most important discrimination of the MS and the BLS.

UI	MeSH Term	Description	Entries
D010641	Phenotype	The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.	Phenotypes
D001921	Brain	The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.	Encephalon
D005192	Family Health	The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members.	Health, Family
D005808	Genes, Recessive	Genes that influence the PHENOTYPE only in the homozygous state.	Conditions, Recessive Genetic,Genetic Conditions, Recessive,Recessive Genetic Conditions,Condition, Recessive Genetic,Gene, Recessive,Genetic Condition, Recessive,Recessive Gene,Recessive Genes,Recessive Genetic Condition
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012779	Short Rib-Polydactyly Syndrome	A syndrome inherited as an autosomal recessive trait and incompatible with life. The main features are narrow thorax, short ribs, scapular and pelvic dysplasia, and polydactyly.	Majewski Syndrome,Saldino-Noonan Syndrome,Asphyxiating Thoracic Dystrophy 3,Polydactyly With Neonatal Chondrodystrophy, Type I,Polydactyly With Neonatal Chondrodystrophy, Type II,Polydactyly with Neonatal Chondrodystrophy, Type 1,Polydactyly with Neonatal Chondrodystrophy, Type 2,Short Rib-Polydactyly Syndrome Type 1,Short Rib-Polydactyly Syndrome, Majewski Type,Short Rib-Polydactyly Syndrome, Saldino-Noonan Type,Short Rib-Polydactyly Syndrome, Type I,Short Rib-Polydactyly Syndrome, Type II,Saldino Noonan Syndrome,Short Rib Polydactyly Syndrome,Short Rib Polydactyly Syndrome Type 1,Short Rib Polydactyly Syndrome, Majewski Type,Short Rib Polydactyly Syndrome, Saldino Noonan Type,Short Rib Polydactyly Syndrome, Type I,Short Rib Polydactyly Syndrome, Type II,Short Rib-Polydactyly Syndromes

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