macrostomia/hearing loss

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Ablepharon-macrostomia syndrome.

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We report three new cases of ablepharon-macrostomia syndrome (AMS) and give a 10-year follow-up on a newborn reported in an abstract. These four patients, as well as those previously reported, all had absent hair, brows, and lashes, absent or short eyelids, macrostomia, ear anomalies, redundant

Evidence for autosomal dominant inheritance of ablepharon-macrostomia syndrome.

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Ablepharon-macrostomia syndrome (AMS) is characterized by absent or short eyelids, macrostomia, ear anomalies, absent lanugo and hair, redundant skin, abnormal genitalia, and developmental delay in two-thirds of the reported patients. Additional anomalies include dry skin, growth retardation,

Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder.

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We report on a 7-year-old girl with unequivocal features of Barber-Say syndrome (BSS): generalized hypertrichosis especially at the back, dry lax skin, macrostomia, thin lips, cup-shaped ears, bulbous nose, hypoplastic nipples, and abnormal external genitalia. She also demonstrated conductive

Macrostomia, thin upper vermilion border, long philtrum, broad halluces, and intellectual disability in two sibs.

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We report on two sibs with marked global developmental delay, hearing loss, unusual facial morphology (hypertelorism, long philtrum, exaggerated cupid bow upper lip, thin upper vermilion, large mouth), and broad halluces which were partly bifid on radiographs. The phenotype in the sibs resembles

Maxillofacial features and systemic malformations in expanded spectrum Hemifacial Microsomia.

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Hemifacial microsomia (HFM) is a rare, multisystemic congenital disease with estimated frequency of 1/26370 births in Europe. Most cases are sporadic and caused by unilateral abnormal morphogenesis of the first and second pharyngeal arches. The aim of this study is to define the types and frequency

Orodental, ear and eye anomalies in Egyptian Brachmann de Lange syndrome cases.

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The Brachmann de Lange syndrome (BDLS), first described in its full clinical presentation by Brachmann (1916) and Cornelia de Lange (1933) is a multi-system syndrome involving congenital malformations, growth retardation and neurodevelopmental delay. We describe here twelve Egyptian cases with this

Hemifacial microsomia.

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Hemifacial microsomia is the second most common congenital facial anomaly, second only to cleft lip and palate. While its precise etiology is not yet known, it is likely caused by a disruption in the development of the first two branchial arches early in embryologic development. The resulting

Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome.

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BACKGROUND Treacher Collins syndrome (TCS) is one of the most severe autosomal dominant congenital disorders of craniofacial development and shows variable phenotypic expression. TCS is extremely rare, occurring with an incidence of 1 in 50.000 live births. The TCS distinguishing characteristics are

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