Biomaterial Database

Lethal short rib syndrome of the Beemer type without polydactyly. 1993

M S Lungarotti, and C Martello, and I Marinelli, and L Falasca

Isituto di Pediatria, Università di Perugia, Italy.

A new case of Beemer short-rib dwarfism is reported and the clinical and radiological differences between this and Majewski type are discussed. The clinical variability related to the lack or presence of polydactyly is underlined, together with the importance of prenatal diagnosis.

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
D008297	Male		Males
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
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
D017689	Polydactyly	A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits.	Hyperdactyly,Polydactylia,Polydactylism,Hyperdactylies,Polydactylias,Polydactylies,Polydactylisms