A new feature of the ablepharon macrostomia syndrome: zygomatic arch absence.
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)
| 유형 | 영어 표현 | 한국어 / 풀이 | UMLS CUI | 출처 | 등장 |
|---|---|---|---|---|---|
| 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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