Cases reported "Syndrome"

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1/8. AEC syndrome and CHAND syndrome: further evidence of clinical overlapping in the ectodermal dysplasias.

    Among the ectodermal dysplasias, there are several examples of overlapping phenotypes in disorders that are considered distinct. We report a 5-year-old boy born to nonconsanguineous parents and presenting with ectodermal dysplasia, ankyloblepharon filiforme adnatum, and bilateral choanal atresia consistent with the diagnosis of AEC syndrome. We compare the findings in our patient with the previous reported cases and discuss the overlapping phenotype of this disorder with CHAND syndrome.
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2/8. Alveolar synechia, ankyloblepharon, and ectodermal disorders: an autosomal recessive disorder?

    A male patient with alveolar synechia and ankyloblepharon filiforme adnatum is reported. He also had bilateral commissural lip pits, inferiorly attached frenulum, generalized hypoplastic nails, and wooly scalp hair. He was a product of consanguineous parents. The disease seemed to be an autosomal recessive syndrome with heterozygote expression.
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3/8. Variable expression in ankyloblepharon-ectodermal defects-cleft lip and palate syndrome.

    The ankyloblepharon-ectodermal defects-cleft lip and palate (Hay-Wells) syndrome is a rare autosomal dominant form of congenital ectodermal dysplasia. It is characterized by coarse, wiry, sparse hair; dystrophic nails; slight hypohidrosis; scalp infections; ankyloblepharon filiforme adnatum; hypodontia; maxillary hypoplasia; and cleft lip and palate. To date, 12 patients have been reported; however, the diagnosis has been questioned in 3 of these patients. We report 2 additional patients, one of whom has nasal speech but not cleft palate, in contrast to all other reported patients. This entity must be distinguished from numerous other forms of ectodermal dysplasia, especially those forms that can be associated with oral clefts and/or ankyloblepharon.
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4/8. Hay-Wells syndrome.

    Hay-Wells syndrome is an autosomal dominant constellation of facial clefting, ankyloblepharon filiforme adnatum (fused eyelids), and ectodermal defects. Our patient, a child who had these unusual features at birth, led us to consider possible differential diagnoses based on clinical features and review of the literature.
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5/8. Ankyloblepharon filiforme adnatum in trisomy 18 (Edwards's syndrome).

    Orbital and ocular abnormalities are commonly found in trisomy 18 (Edwards's syndrome). We believe this to be the first case reported in the literature of ankyloblepharon filiforme adnatum (AFA) occurring in Edwards's syndrome, and the literature on AFA is reviewed.
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6/8. Limb pterygium syndromes: a review and report of eleven patients.

    Conditions with limb pterygia and congenital contractures were reviewed as part of a study of over 350 infants with arthrogryposis. Emphasis was placed on inheritance and variability of distinct pterygium conditions. Eleven patients with limb pterygia were recognized in our study and are described here. Seven of the 350 patients with congenital contractures had the autosomal recessively inherited multiple pterygium syndrome (patients 1-7). Three of the seven are sibs, a fourth was born to consanguineous parents, and three were chance isolated cases. These seven had multiple joint webs, unusual finger contractures, syndactyly, rocker bottom feet, ptosis, antimongoloid slant of palpebral fissures, epicanthal folds, highly arched palate, scoliosis, and short stature. There is intrafamilial variability. Three patients from one family had a lethal multiple pterygium syndrome. Two were monozygotic twins. They had webbing and contractures of the elbows, knees, neck, and fingers, calcaneovalgus deformity of the feet, and an unusual facial appearance: hypertelorism, flat nose, antimongoloid slant of palpebral fissures, apparently low-set ears. One had a cleft palate. Internal malformations included: bilateral pulmonary hypoplasia, small heart, absence of the appendix, and attenuation of the ascending and transverse colon. One sporadic case of lethal popliteal pterygium with facial clefts was studied. Multiple anomalies included: ankyloblepharon filiforme adnatum, upslanting palpebral fissures, hypoplasia of nasal cartilages, frenula, clefts into the oropharynx lateral to the mouth, apparently low-set ears with slit-like canals, large popliteal pterygia, syndactyly with fusion of all digits in hands and feet, and hypoplastic labia.
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7/8. Ankyloblepharon filiforme adnatum: congenital eyelid-band syndromes.

    Three infants had congenital eyelid bands, ankyloblepharon filiforme adnatum (AFA), in association with cleft lip and palate. A review of the literature of all previously reported cases of AFA was performed and a new classification of the various clinical types of AFA is proposed. This new classification should aid in genetic counseling.
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8/8. Severe skin erosions and scalp infections in AEC syndrome.

    Hay-Wells syndrome is an autosomal dominant condition characterized by ankyloblepharon filiforme adnatum, ectodermal dysplasia, and cleft palate with or without associated cleft lip (AEC syndrome). Although several reported patients had eroded skin at birth and recurrent scalp infections, these are not generally regarded as major features of the disorder. In our experience, denuded skin at birth and chronic scalp erosions complicated by infection are common features of this syndrome. Aggressive wound care in conjunction with early administration of topical or systemic antibiotics is suggested.
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