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Uniparental isodisomy resulting from 46,XX,i(1p),i(1q) in a woman with short stature, ptosis, micro/retrognathia, myopathy, deafness, and sterility.

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We report on a 43-year-old woman who was referred for evaluation because of minor facial anomalies, myopathy, sterility, short stature, hearing loss, downward slant of palpebral fissures, bilateral ptosis, severe micro/retrognathia, high arched palate, and scoliosis. Cytogenetic analyses utilizing

Anesthetic management of a patient with branchio-oto-renal syndrome.

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Branchio-oto-renal syndrome (BOR) is a rare autosomal dominant disorder. The features include branchial cysts, hearing loss, ear malformation, preauricular pits, retrognathia, congenital heart disease, and renal abnormalities. However, anesthetic management of these patients has seldom been

[Arteriovenous fistula of the maxillary artery, eustachian tube dysfunction and tinnitus after Le Fort I osteotomy].

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A 36-year-old woman with a maxillary retrognathia underwent a Le Fort I osteotomy. Postoperatively, she complained of pulsatile noise and hearing loss in the left ear. Carotid arteriography revealed an arteriovenous fistula of the left maxillary artery; in addition, a persistent eustachian tube

Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature.

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BACKGROUND Pierre-Robin sequence (PRS) is defined by micro- and/or retrognathia, glossoptosis and cleft soft palate, either caused by deformational defect or part of a malformation syndrome. Neurofibromatosis type 2 (NF2) is an autosomal dominant syndrome caused by mutations in the NF2 gene on

THOC6 Intellectual Disability Syndrome

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Clinical characteristics: THOC6 intellectual disability syndrome is associated with moderate-to-severe developmental delay or intellectual disability; nonspecific dysmorphic facial features (tall forehead, deep-set eyes, short and

A patient with ascending aortic dilatation, similar to phenotypes of connective tissue disorders.

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We report on the clinical and molecular findings of a patient who presented alopecia, epicanthus, micrognathia, retrognathia, high arched palate, hypertelorism, Chiari type I malformation, mixed-type hearing loss but with normal heartbeat Q-T interval, malformed earlobes, down-slanted palpebral

Characterization of SPATA5-related encephalopathy in early childhood.

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Mutations in SPATA5 have recently been shown to result in a phenotype of microcephaly, intellectual disability, seizures, and hearing loss in childhood. Our aim in this report is to delineate the SPATA5 syndrome as a clinical entity, including the facial appearance, neurophysiological, and

Mild form of treacher collins syndrome imitating juvenile otosclerosis.

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Treacher Collins syndrome (TCS) is an inherited developmental disorder. More than 40% of individuals with TCS have conductive hearing loss attributed to external and middle ear anomalies. Mild cases of TCS often pass undiagnosed at birth or early childhood. The disease may be manifested as

Fiberoptic tracheal intubation through a laryngeal mask airway in a child with Treacher Collins syndrome.

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Treacher Collins syndrome (TCS) is a rare inherited condition characterized by bilateral and symmetric abnormalities of structures within the first and second bronchial arches. The mechanism of inheritance is autosomal dominant with variable expressivity. Because of this variability in expression,

22q11.2 Microduplication in a patient with 19p13.12-13.13 deletion.

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BACKGROUND The chromosome 22q11.2 region microduplication has been described in patients with variable phenotypes. Here we present a 3-month-old girl with both 22q11.2 microduplication and 19p13.12-13.13 deletion. The presence of both genomic imbalances in one patient has not been previously

A MOLECULARLY CHARACTERIZED INTERSTITIAL DELETION ENCOMPASSING THE 11q14.1-q23.3 REGION IN A CASE WITH MULTIPLE CONGENITAL ABNORMALITIES.

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Interstitial deletion of chromosome 11 long arm is a rare event. In most of the interstitial deletions on the long arm of chromosome 11 both the position and the size of these deletions are heterogeneous making a precise karyotype-phenotype correlation. In only a few of the reported cases has the

Hemifacial microsomia in cat-eye syndrome: 22q11.1-q11.21 as candidate loci for facial symmetry.

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Cat-Eye syndrome (CES), (OMIM 115470) also known as chromosome 22 partial tetrasomy or inverted duplicated 22q11, was first reported by Haab [1879] based on the primary features of eye coloboma and anal atresia. However, >60% of the patients lack these primary features. Here, we present a

A distinct type of hidrotic ectodermal dysplasia.

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Four individuals from 2 generations of a family had a hidrotic type of ectodermal dysplasia (ED). Males and females were similarly affected. They had trichodysplasia, with absent eyebrows and eyelashes; normal teeth, onychodysplasia; normal sweating; mild retrognathia; abnormal dermatoglyphics; and

Multidisciplinary treatment approach in Treacher Collins syndrome.

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Treacher Collins syndrome (TCS) is a common genetic disorder with high penetrance and phenotypic variability. First and second branchial arches are affected in TCS, resulting in craniofacial and intraoral anomalies such as: severe convex facial profile; mid-face hypoplasia; microtia; eyelid

A novel description of a syndrome consisting of 7q21.3 deletion including DYNC1I1 with preserved DLX5/6 without ectrodactyly: a case report.

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BACKGROUND Chromosomal region 7q21.3 comprises approximately 5.2 mega base pairs that include genes DLX5/6, SHFM1, and DYNC1I1 associated with split hand/split foot malformation 1. So far, there are reports of eight families with deletion of DYNC1I1 and preserved DLX5/6 associated with ectrodactyly.

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