๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

A familial syndrome of unusual facies associated with malocclusion and short stature

โœ Scribed by Burhan Say; Ergul Tuncbilek; Tugrul Pirnar

Book ID
104706891
Publisher
Springer
Year
1973
Tongue
English
Weight
213 KB
Volume
18
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.

๐Ÿ“œ SIMILAR VOLUMES

A dominantly inherited syndrome (microce
A dominantly inherited syndrome (microcephaly, short stature, peculiar facies, mental retardation) associated with two balanced rearrangements involving chromosomes 2;7 and 5;20
โœ Rossella Vivarelli; Orsetta Zuffardi; Paola Maraschio; Cecilia Anichini; R. Scar ๐Ÿ“‚ Article ๐Ÿ“… 1988 ๐Ÿ› Springer ๐ŸŒ English โš– 303 KB

A complex balanced three-break-point rearrangement between chromosome 2 and chromosome 7 and a balanced reciprocal translocation between chromosome 5 and chromosome 20, were found associated in a girl and in her mother and grandmother. All three of them have microcephaly, low stature, peculiar asymm

Microcephaly-lymphedema syndrome: Report
Microcephaly-lymphedema syndrome: Report of a family with short stature as additional manifestation
โœ Strenge, Sibylle; Froster, Ursula G. ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 31 KB ๐Ÿ‘ 2 views

Patients with the rare autosomal dominant microcephaly-lymphedema syndrome have apparently normal intelligence. We report on a boy with microcephaly, lymphedema, and short stature as an additional manifestation. The family history of our patient suggests autosomal dominant inheritance with reduced p