Distinctive Skeletal Abnormalities With No Microdeletions or Microduplications on Array-CGH in a Boy With Mohr Syndrome (Oro-Facial-Digital Type II)

TL;DR

A boy with Mohr syndrome (Oro-Facial-Digital Type II) shows unique skeletal abnormalities not linked to genetic deletions or duplications.

Contribution

The report highlights a new constellation of skeletal anomalies in Mohr syndrome without detectable genomic imbalances.

Findings

The boy exhibited obtuse mandibular angle, hexadactyly, and metacarpo-phalangeal synostosis.

Bilateral coxa valga and hip subluxation, along with foot deformities, were observed.

Array-CGH analysis found no microdeletions or microduplications.

Abstract

We describe a constellation of distinctive skeletal abnormalities in an 8-year-old boy who presented with the full clinical criteria of oro-facial-digital (OFD) type II (Mohr syndrome): bony changes of obtuse mandibular angle, bimanual hexadactyly and unilateral synostosis of the metacarpo-phalanges of 3-4, bilateral coxa valga associated with moderate hip subluxation, over-tubulation of the long bones, vertical talus of the left foot and talipes equinovarus of the right foot respectively. Interestingly, we encountered variable minor malformations in his parents, confirming the autosomal recessive pattern of inheritance. There were no microdeletions or microduplications after performing array-CGH-analysis. We report what might be a constellation of unreported skeletal abnormalities in a child with OFD type II (Mohr syndrome).

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