TIBIAL APLASIA – ECTRODACTYLY SYNDROME

This is an autosomal dominant syndrome with variable expression and frequent examples of non-penetrance in structurally normal obligate carriers.

ULTRASOUND

• Hands (68%).
• Ectrodactyly.
• Absence of multiple fingers.
• Feet (64%).
• Absence of tarsals, metatarsals and toes.

• Limbs.
• Absence of long bone of legs in 55% of cases (most commonly tibial aplasia.
• Tibial hypoplasia.
• Fibular hypoplasia or aplasia.

• Less common anomalies include.
• Cup shaped ears.
• Aplasia of ulna, radius or humerus.
• Monodactyly, syndactyly, absence of multiple fingers.
• Ectrodactyly of the feet.
• Metatarsaus adductus, talipes equinovarus.
• Postaxial polydactyly.
• Absence or an entire leg.
• Hypoplastic femur.
• Hypoplastic big toe.
• Craniosynostosis.

REFERENCES

1. Majewski F. Aplasia of the tibia with split hand/foot deformity. Report of six families with 35 cases and considerations about variability and penetrance. Hum Genet 1985;70:136.
2. Hoyme HE et.al. Autosomal dominant ectrodactyly and absence of long bones of upper or lower limbs: Further clinical delineation. J Pediatr 1987;111:538.