Biomaterial Database

Short rib-polydactyly syndrome in twins: Beemer-Langer type with polydactyly. 1996

N Elçioğlu, and G Karatekin, and B Sezgin, and A Nuhoğlu, and A Cenani

Department of Genetics, Cerrahpasa Medical School, Istanbul, Turkey.

We present premature female twin fetuses with concordant extremely shortened ribs, short limbs, macrocephaly, median cleft upper lip and facial dysmorphism. Based on radiological criteria and the pattern of associated abnormalities, a lethal short rib-polydactyly syndrome (Beemer-Langer type) was diagnosed. The differential diagnosis of this entity is discussed.

UI	MeSH Term	Description	Entries
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D007235	Infant, Premature, Diseases	Diseases that occur in PREMATURE INFANTS.
D011859	Radiography	Examination of any part of the body for diagnostic purposes by means of X-RAYS or GAMMA RAYS, recording the image on a sensitized surface (such as photographic film).	Radiology, Diagnostic X-Ray,Roentgenography,X-Ray, Diagnostic,Diagnostic X-Ray,Diagnostic X-Ray Radiology,X-Ray Radiology, Diagnostic,Diagnostic X Ray,Diagnostic X Ray Radiology,Diagnostic X-Rays,Radiology, Diagnostic X Ray,X Ray Radiology, Diagnostic,X Ray, Diagnostic,X-Rays, Diagnostic
D005260	Female		Females
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
D014427	Twins	Two individuals derived from two FETUSES that were fertilized at or about the same time, developed in the UTERUS simultaneously, and born to the same mother. Twins are either monozygotic (TWINS, MONOZYGOTIC) or dizygotic (TWINS, DIZYGOTIC).	Twin
D017689	Polydactyly	A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits.	Hyperdactyly,Polydactylia,Polydactylism,Hyperdactylies,Polydactylias,Polydactylies,Polydactylisms
D017809	Fatal Outcome	Death resulting from the presence of a disease in an individual, as shown by a single case report or a limited number of patients. This should be differentiated from DEATH, the physiological cessation of life and from MORTALITY, an epidemiological or statistical concept.	Fatal Outcomes,Outcome, Fatal,Outcomes, Fatal