Clin Dysmorphol

Four cases of amelia of the upper limb associated with anal atresia--is this VACTERL with extreme limb involvement?

Year 1998
Price SM. Berry AC. Raymond FL. Turnpenny P. Young ID.
Department of Clinical Genetics, Leicester Royal Infirmary, UK.
Amelia is an extremely rare abnormality with a highest reported incidence of 1 in 67,500 liveborn infants. We now report four cases in each of which amelia involving one upper limb occurred in association with anal atresia. The pattern of other abnormalities present in these cases suggests that this combination of amelia and anal atresia falls within the spectrum of the VACTERL association.

Unusual association of congenital malformations: craniosynostosis, heart defect, abnormal intestinal innervation and urogenital abnormalities.

Year 1998
Van Nesselrooij BP. Spliet W. Beemer FA.
Clinical Genetics Center Utrecht, The Netherlands. Nesselrooij@pobox.ruu.nl
Monozygotic male twins and an unrelated boy are described who have an unusual association of malformations, i.e. craniosynostosis of the sagittal suture, a cardiac malformation, urogenital anomalies, intestinal malformations and a single umbilical artery. The twins are discordant for these features, except for Hirschsprung disease. No similar cases could be traced in literature. The possible genetic background is discussed.

Goldberg-Shprintzen syndrome: report of a new family and review of the literature.

Year 1998
Fryer AE.
Department of Clinical Genetics, Royal Liverpool Childrens Hospital (Alder Hey), UK.
In 1981, Goldberg and Shprintzen described siblings with short-segment Hirschsprung disease, cleft palate, microcephaly, mild mental retardation, short stature and distinctive facial appearance. There have been several subsequent reports which broaden the phenotype. This paper describes a further family, reviews the literature and stresses the intra-familial variability.

Rapadilino syndrome--a non-Finnish case.

Year 1998
Kant SG. Baraitser M. Milla PJ. Winter RM.
Mothercare Unit of Clinical Genetics, Institute of Child Health, London, UK.
We report on a boy with RAPADILINO syndrome. Including this report seven children with this syndrome have been described. The patient developed a poikilodermatous skin rash, suggesting overlap with the Rothmund-Thompson syndrome.