(CCDDs) encompass most congenital, static restrictions of ocular motility, often associated
with ptosis, and retraction of the globe. 1 The CCDDs can be monogenic or chromosomal in …

Purpose: Some individuals are born with congenital limitation of ocular motility, often
associated with ptosis and retraction of the globe. Many of these disorders are now known …

Background Congenital cranial dysinnervation disorders (CCDDs) are a group of diseases
with high clinical and genetic heterogeneity. Clinical examinations combined with Magnetic …

Congenital bilateral anophthalmia and microphthalmia are rare conditions, with overall
prevalence in one study set at 1.0 per 10,000 births9. We report here a case of congenital …

Objective: 3q29 microdeletion syndrome is a rare genetic disorder which results from
interstitial microdeletion of a segment on the long arm of chromosome 3. The syndrome is …

An 8-month-old boy was presented to the hospital with complaints of episodes of shoulder
jerking. He was born at 38 weeks of gestation in a 2nd gravida mother. Antenatal history was …

We are syndromologists. We recognize patterns of clinical abnormalities and try to match
them to known entities—syndromes. We are excited to diagnose the rare and unusual and …

We read with great interest the article by Connors et al.(1) published in the Journal on the
“16 syndrome.” The authors described an interesting eye movement pattern characterized …

Interstitial deletions of chromosome 12p are rare, and the phenotype spectrum is therefore
still unknown. The thirteen patients reported so far suffer from developmental delay, optic …

Sixteen-year-old monozygotic twins were referred to our clinical genetics outpatient clinic by
their pediatrician for genetic counseling regarding a chromosomal microarray result. They …