A new feature of the ablepharon macrostomia syndrome: zygomatic arch absence.

British journal of plastic surgery 1988 Vol.41(4) p. 410-6

Jackson IT, Shaw KE, del Pinal Matorras F

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Abstract

The ablepharon macrostomia syndrome is an extremely rare congenital anomaly. It is characterised by bilateral absence or hypoplasia of lower eyelids, macrostomia and multiple other congenital anomalies. Three cases have been reported (McCarthy and West, 1977; Hornblass and Reifler, 1985). In addition to ablepharon and macrostomia, other anomalies common to all patients include auricular deformity, nasal alar deformity, absence of lanugo hair, dry, ichthyotic skin and ambiguous genitalia. A new feature of the syndrome is described--absence of the zygomatic arches. In addition, an expanded and revised classification of the ablepharon macrostomia syndrome and related disorders is presented. Skin graft pigmentation in this black patient has been prevented by prolonged application of sun block.

추출된 의학 개체 (NER)

유형영어 표현한국어 / 풀이UMLS CUI출처등장
시술 skin graft 피부이식 dict 1
해부 skin scispacy 1
해부 alar 콧방울 dict 1
합병증 pigmentation 색소침착 dict 1
합병증 eyelids scispacy 1
질환 ablepharon macrostomia syndrome C1860224
ABLEPHARON-MACROSTOMIA SYNDROME
scispacy 1
질환 congenital anomaly C0000768
Congenital Abnormality
scispacy 1
질환 macrostomia C0024433
Macrostomia
scispacy 1
질환 congenital anomalies C0000768
Congenital Abnormality
scispacy 1
질환 anomalies C0000769
teratologic
scispacy 1
질환 auricular deformity scispacy 1
질환 nasal alar deformity C0240547
Deformity of the nose
scispacy 1
질환 ichthyotic C0020757
Ichthyoses
scispacy 1
기타 auricular scispacy 1
기타 nasal alar scispacy 1
기타 lanugo hair scispacy 1
기타 zygomatic arches scispacy 1
기타 patient scispacy 1
기타 zygomatic arch scispacy 1
기타 patients scispacy 1

MeSH Terms

Abnormalities, Multiple; Child; Eyelids; Humans; Macrostomia; Male; Surgery, Plastic; Syndrome; Zygoma

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