Syndromes ASSOCIATED With Radial Hypoplasia/Aplasia
· Turner's syndrome- Associated with radial hypo plasia/aplasia. Cystic hygroma often
· Roberts' syndrome- (pseudothalidomide syndrome) Autosomal recessive; tetraphocomelia, cleft lip/palate, absent thumbs (thumbs sometimes present) associated with multiple dysmorphic features and malformations.
· Holt-Oram syndrome- Autosomal dominant; thumb and terminal upper limb defects commonly associated with CHD (especially ASD).
· Holt-Oram syndrome- Autosomal recessive; terminal limb osseous defects, absent thumbs, renal anomalies.
· Amniotic band syndrome- Asymmetric slash defects involving limb, face, head and trunk; a band may be seen in relation to the defect.
· TAR syndrome- (Thrombocytopenia—absent radius syndrome) Autosomal recessive; absent radius, commonly associated with CHD.
· Fetal valproate syndrome- Vaiproate, a drug used in epilepsy, has been associated with a characteristic facial phenotype, which may not be detectable on antenatal ultrasound but other features of the syndrome such as radial aplasia, CHD, CNS (neural tube defects) and other skeletal anomalies are readily identified.
· Levy- Holliester syndrome- (lacrimoauriculodentodigital syndrome) Autosomal dominant; associated with malformed ears, beak-like nose, radial aplasia, digital and renal anomalies.
· Baller- Gerold syndrome- Autosomal recessive; associated with craniosynostosis, radial aplasia/hypoplasia, aplasia/hypoplasia of thumbs, missing phalanges, CHD, crossed renal ectopia and vertebral anomalies.
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