Vaginal Atresia-One Amongst the Manifestations of Rare Charge Syndrome

CHARGE syndrome is a rare autosomal dominant disorder, associated with coloboma (C), heart defects (H), choanal atresia (A), retardation of growth and/or central nervous system (R), genitourinary anomalies (G) and ear abnormalities (E). Prenatal diagnosis of the syndrome is very rare but may be suspected when a combination of such abnormalities is identified. We describe a prenatally suspected case of CHARGE syndrome due to unique findings of cardiac defects (DORV) in combination with minor clues, including a structurally malformed ear with persistent non-response to an acoustic stimulation (which has never been prenatally described elsewhere), renal malrotation and growth restriction. Postnatal diagnosis was made based on confirmation of the prenatal findings and additional specific findings of bilateral coloboma, choanal atresia and ear canal stenosis. Finally, molecular genetic testing by whole exome sequencing of the neonate and her parents revealed a novel de novo heterozygous frameshift c.3506_3509dup variant in the CHD7 gene, confirming the clinical diagnosis of CHARGE syndrome. In conclusion, we describe unique prenatal features of CHARGE syndrome. Educationally, this is one of the rare examples of CHARGE syndrome, comprising all of the six specific anomalies as originally described; it is also supported by the identification of a specific genetic mutation. The identified genetic variant has never been previously reported, thereby expanding the mutational spectrum of CHD7. Finally, this case can inspire prenatal sonographers to increase awareness of subtle or minor abnormalities as genetic sonomarkers.

Download Full-text

VAGINAL ATRESIA WITH CRYPTOMENORRHŒA

The Medical Journal of Australia ◽

10.5694/j.1326-5377.1950.tb80265.x ◽

1950 ◽

Vol 1 (9) ◽

pp. 301-302

Author(s):

Philip C. Thomas

Keyword(s):

Vaginal Atresia

Download Full-text

A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report

BMC Medical Genetics ◽

10.1186/s12881-019-0859-y ◽

2019 ◽

Vol 20 (1) ◽

Author(s):

Evelina Siavrienė ◽

Gunda Petraitytė ◽

Violeta Mikštienė ◽

Tautvydas Rančelis ◽

Živilė Maldžienė ◽

...

Keyword(s):

Case Report ◽

Splice Site ◽

Charge Syndrome ◽

Acceptor Splice Site

Download Full-text

Otopathologic Abnormalities in CHARGE Syndrome

Otolaryngology ◽

10.1177/01945998211008911 ◽

2021 ◽

pp. 019459982110089

Author(s):

Rafael da Costa Monsanto ◽

Renata Malimpensa Knoll ◽

Norma de Oliveira Penido ◽

Grace Song ◽

Felipe Santos ◽

...

Keyword(s):

Facial Nerve ◽

Middle Ear ◽

Spiral Ganglion ◽

Internal Auditory Canal ◽

Semicircular Canals ◽

Charge Syndrome ◽

University Of Minnesota ◽

Bony Canal ◽

Ganglion Neurons ◽

Temporal Bones

Objective To perform an otopathologic analysis of temporal bones (TBs) with CHARGE syndrome. Study Design Otopathologic study of human TB specimens. Setting Otopathology laboratories. Methods From the otopathology laboratories at the University of Minnesota and Massachusetts Eye and Ear Infirmary, we selected TBs from donors with CHARGE syndrome. These TBs were serially sectioned at a thickness of 20 µm, and every 10th section was stained with hematoxylin and eosin. We performed otopathologic analyses of the external ear, middle ear (middle ear cleft, mucosal lining, ossicles, mastoid, and facial nerve), and inner ear (cochlea, vestibule, internal auditory canal, and cochlear and vestibular nerves). The gathered data were statistically analyzed. Results Our study included 12 TBs from 6 donors. We found a high prevalence of abnormalities affecting the ears. The most frequent findings were stapes malformation (100%), aberrant course of the facial nerve (100%) with narrow facial recess (50%), sclerotic and hypodeveloped mastoids (50%), cochlear (100%) and vestibular (83.3%) hypoplasia with aplasia of the semicircular canals, hypoplasia and aplasia of the cochlear (66.6%) and vestibular (91.6%) nerves, and narrowing of the bony canal of the cochlear nerve (66.6%). The number of spiral ganglion and Scarpa’s ganglion neurons were decreased in all specimens (versus normative data). Conclusions In our study, CHARGE syndrome was associated with multiple TB abnormalities that may severely affect audiovestibular function and rehabilitation.

Download Full-text