Answer to the case #59

September 28-October 11,  2001

Rama Murthy, MD

Bangalore, India

A 21 year old second gravida presents for a growth assessment scan at 32 weeks. Her anomaly scan done at 20 weeks was said to be normal. Several anomalies were recognized during the scan. On describing these anomalies, the patient concedes that her three year old son has similar findings.

The umbilical cord contains 2 vessels

The toes of the left foot demonstrate absence of one toe (most likely the 5^th toe).

The mouth presents a bilateral cleft lip, micrognathia and the 3D of the ear, a misshapen ear:

The newborn:

An older sibling has a repaired cleft lip, cryptorchidism, deformed ears, and four toes (absent 5^th toe) in both feet.

Findings

The findings thus are: 

• a two-vessel cord
• absence of toes (probably the 5th, thus a post-axial oligodactyly
• bilateral cleft lip
• micrognathia 
• a misshapen ear

Further, we knew that the older sibling of the proband had substantially similar findings. (Remember that the non-visualization of the cleft-lip in an older child is attributable to the repair !). Thus it was likely that this was an autosomal recessive trait. Using "absence of toe, cleft-lip" in OMIM provided only 5 choices, of which postaxial acrofacial dysostosis syndrome is the closest.