A multiple malformations syndrome with cleft lip and palate and ankyloblepharon filiforme adnatum

Pandya, Aditya; Bharucha, B. A.; Patwardhan, S. D.; Kagalwalla, T. Y.; Kumta, N. B.

doi:10.1007/bf02749581

Cited by 2 publications

(1 citation statement)

References 5 publications

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“…Rosenman classified AFA into four subgroups in 1980, 4 group 1: sporadic AFA without any associated defects and particular genetic pattern; group 2: AFA is associated with cardiac defects (such as ventricular septal defects and patent ductus arteriosus), 4,5 gastrointestinal (imperforate anus) or central nerves system defects (hydrocephalus and/or meningomyelocele); 6 group 3: AFA is associated with ectodermal malformation syndromes such as popliteal pterygium syndrome, 7 CHAND syndrome (acronym for curly hair, ankyloblepharon, nail dysplasia); group 4: AFA is associated with cleft lip and/or palate defects in the patient or in the extended family (Hay-Wells syndrome). 3 Recent literatures documented many associated defects in AFA babies which were not included in the above classified groups and suggested a fifth group of AFA characterized by being associated with chromosomal abnormalities (trisomy-18, complex chromosome rearrangements).…”

Section: Discussionmentioning

confidence: 99%

Bilateral ankyloblepharon filiforme adnatum associated with cardiac defects

Zhu¹,

Ju²

2018

AMJ

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Ankyloblepharon filiforme adnatum (AFA) is a rare congenital anomaly and its presentation always indicates the possibility of other important anomalies. AFA is classified into four subgroups based on the associated abnormalities. Here we report a case of AFA associated with cardiac defects happened to an in vitro fertilization (IVF) female baby whose mother is elderly parturient (more than 43-year-old), and the baby was treated one day after birth.

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Section: Discussionmentioning

confidence: 99%

Bilateral ankyloblepharon filiforme adnatum associated with cardiac defects

Zhu¹,

Ju²

2018

AMJ

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Severe Skin Erosions and Scalp Infections in AEC Syndrome

Vanderhooft

Stephan

Sybert

1993

Pediatric Dermatology

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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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A multiple malformations syndrome with cleft lip and palate and ankyloblepharon filiforme adnatum

Cited by 2 publications

References 5 publications

Bilateral ankyloblepharon filiforme adnatum associated with cardiac defects

Bilateral ankyloblepharon filiforme adnatum associated with cardiac defects

Severe Skin Erosions and Scalp Infections in AEC Syndrome

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