acheiria
description
acheiria is defined as the absence of a hand or hands. it has been reported in association with fetal hydantoin syndrome as well as in combination with other anomalies.
diagnosis
it is not a difficult diagnosis to make on ultrasound provided that an adequate view of the limbs is possible
differential diagnosis
radial ray defects
amniotic band syndrome
sonographic features
absence of one or both hands
amniotic bands should be sought
associated syndromes
- acheiropodia (brazil type)
- adams-oliver syndrome
- amniotic bands/ amniotic rupture sequence
- brachmann de lange
- fetal-hydantoin syndrome
- oromandibular-limb hypogenesis (moebius)
references
1. alaani, s. t., & miri’e, a. a. (2004). case report: left hand acheiria in 3 newborns within a period of 3 months during the year 2011 in fallujah general hospital.
2. hayes im, varigos g, upjohn ej, orchard dc, penny dj, savarirayan r. unilateral acheiria and fatal primary pulmonary hypertension in a girl with incontinentia pigmenti. am j med genet a. 2005 jun 15;135(3):302-3. doi: 10.1002/ajmg.a.30698. pmid: 15884011.
3. braddock sr, lachman rs, stoppenhagen cc et-al. radiological features in brachmann-de lange syndrome. am. j. med. genet. 1993;47 (7): 1006-13. doi:10.1002/ajmg.1320470714 – pubmed citation
4. sabry ma, farag ti. hand anomalies in fetal-hydantoin syndrome: from nail/phalangeal hypoplasia to unilateral acheiria. am. j. med. genet. 1996;62 (4): 410-2. doi:10.1002/ajmg.1320620403 – pubmed citation