Alternating Hypotropia with Pseudoptosis: A New Phenotype of Congenital Cranial Dysinnervation Disorder

A congenital cranial dysinnervation disorder: Möbius' syndrome.

Möbius' syndrome, also known as Möbius' sequence, is a nonprogressive cranial dysinnervation disorder characterized by congenital facial and abducens nerve paralysis. Here, we report a 5-day-old girl who was conceived after in vitro fertilization with poor suck and facial paralysis. She had bilaterally ptosis and lateral gaze limitation, left-sided deviation of the tongue, dysmorphic face, hypo...

Congenital crocodile tears with Duane's syndrome--congenital cranial dysinnervation syndrome.

Chromosome 6 microdeletion in a patient with syndromic congenital cranial dysinnervation disorder

T congenital cranial dysinnervation disorders (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 origin. Although chromosomal copy number variations (CNVs) has been reported in patients with syndromic CCDDs,2 but there are still patients for whom the genetic basis has...

Surgical management of hypotropia in congenital fibrosis of extraocular muscles (CFEOM) presented by pseudoptosis

PURPOSE To describe the demographics, characteristics, management pitfalls, and outcomes of pseudoptosis associated with congenital fibrosis of the extraocular muscles (CFEOM). METHODS A retrospective review was performed of eight patients presenting with ptosis and hypotropia to oculoplastic service. All patients underwent full ocular evaluation and magnetic resonance imaging of brain and or...

Recent progress in understanding congenital cranial dysinnervation disorders.

BACKGROUND In 2002, the new term congenital cranial dysinnervation disorder (CCDD) was proposed as a substitute for the traditional concept of congenital fibrosis of the extraocular muscles (CFEOM) based on mounting genetic, neuropathologic, and imaging evidence, suggesting that many, if not all, of these disorders result from a primary neurologic maldevelopment rather than from a muscle abnorm...