"Microcytogenetics" and Langer-Giedion syndrome.

Author:

Frontali M,Ramenghi M,Trabace S,Dallapiccola B

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference17 articles.

1. Rott HD. Zur Haufigkeit und Atiologie der Omphalozelen. Z Kinderheilkd 1975;119:133-41.

2. Exomphalos in four consecutive pregnancies;Kucera, J.; Goetz, P.;Humangenetik,1971

3. Sib risk of neural tube defect: is prenatal diagnosis indicated in pregnancies following the birth of a hydrocephalic child?;Cohen, T.; Stern, E.; Rosenmann, A.;J Med Genet,1979

4. Recently Pfeiffer2 and Buhler et a13 have suggested position towards other closure defects (old term

5. The distribution of dysraphic features in our family, too, raises the possibility of a common pathogenesis (be it genetic or environmental or both) of these malformations. If so the appearance of one of them would warrant measures to prevent, or to diagnose antenatally, the others. This conclusion is analogous to that drawn by Cohen and colleagues3 showing the characteristic features of LG syndrome, including mental retardation, short stature, microcephaly, peculiar facies, cone-shaped epiphyses of the phalangeal and metacarpal bones, and multiple cartilaginous exostoses (MCE). Further evidence for a similar association has been provided by Fryns et a14 in a subject with a deletion of band 8q21. The patient displayed dysmorphic features reminiscent of LG syndrome and MCE, which were detected at 4 years, but were apparently absent at 15 months, when first examined.5

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