New findings in short rib syndrome

Abstract

This white infant, born at 37 weeks of gestation, had a large cranium, bilateral anophthalmia, a midline cleft lip and palate, hypoplastic chest with short ribs, slightly protuberant abdomen, short limbs, bilateral single transverse palmar creases, a single umbilical artery, normal female external genitalia, normal (46 XY) chromosomes, and radiographic findings suggesting a short-rib (polydactyly) syndrome type IV (Beemer-Langer). Autopsy showed pulmonary hypoplasia, bilateral renal cystic dysplasia, intrahepatic bile duct cysts with periportal fibrosis, pancreatic cysts, absent internal genitalia, an atrophic optic chiasm, absent optic nerves, a single left anterior cerebral artery, polymicrogyria, and fusion of the frontal lobes, preoptic region, mammillary bodies, and thalami.

Short rib‐dysplasia group (with/without polydactyly): Report of a patient suggesting the existence of a continuous spectrum

“…However, more and more subtypes are being de- scribed, some of them with overlapping clinical manifestations. [Bernstein et al, 1985;Munke et al, 1990;Hingorani et al, 1991;Sharma et al, 1992;Cideciyan et al, 1993;Martinez-Frias et al, 1993a, b;Bronstein et al, 19941. The malformation complex found in our patient appears to be an SR(P) syndrome sharing manifestations with Mohr, Majewski, Verma-Naumoff, Beemer, and Jeune syndromes (Table I).…”

Another PMA‐related fatality In Adelaide

“…This agrees with other studies from western Sydney which showed an increase of heroin-related deaths from 1.7% in 1992 to 3.7% in 1995. 2 In our study, men outnumbered women 5:1, and the greatest number of male deaths occurred in the 25-35 years age range (mean age, 32 .5 years). A similar study from Sydney in the 1980s found the greatest number of deaths occurred in men aged 25-29 years" In our study, 117 (82%) of the deceased were caucasian Australians, 89 (62%) were single and 53 (37%) were employed.…”

“…This is in accord with the western Sydney study, which found alcohol to be the most frequently detected other drug. 2 Benzoylecgonine (a metabolite of cocaine) was detected in 18 (13%) of our cases. All of these cases also had heroin detected in their blood.…”

Mutations in IFT80 cause SRPS Type IV. Report of two families and review

“…The specific type of tibial defect, usually short and bowed, but non ovoid, was described as a discriminant feature of BLS (Lurie, ). Nonskeletal features include hydrops, omphalocele, which is not classically seen in other SRPS, median cleft lip, accessory frenulum, brain defect, abnormalities of the genitalia and biliary system, and renal and pancreatic cysts (Cideciyan et al, ).…”

“…BLS, Beemer‐Langer syndrome (SRPS Type IV); SRPS, short‐ribs polydactyly syndrome; NA, not available. 01‐F1‐1, Wladimiroff et al (); 02‐F1‐1, Black et al, (1982); 03‐F1‐1 and 03‐F1‐2, Le Marec et al (1982); 04‐F1‐1 and 04‐F2‐1, Beemer et al (); 05‐F1‐1 and 05‐F1‐2, Passarge et al (1983); 06‐F1‐1, Garcia et al (1988); 07‐F1‐1, Winter et al (1988); 08‐F1‐1, Chen et al (1989); 09‐F1‐1 and 09‐F1‐2, Hennekam et al (1991); 10‐F1‐1, Yang et al (1991); 11‐F1‐1, Dominick et al (1991); 12‐F1‐1, Lin, Doshi, Flom, Tenenholz, and Filkins (); 13‐F1‐1 and 13‐F1‐2, Balci et al (1991); 14‐F1‐1, Cideciyan, Rodriguez, Haun, Abdenour, and Bruce (); 15‐F1‐1 and 15‐F1‐2, Elçioǧlu et al (1996); 16‐F1‐1, Myong et al (1998); 17‐F1‐1, Vujanic and Hunt (); 18, Kovács et al (); 19‐F1‐1, Silveira, Moreno, and Cavalcanti ().…”