SavedAdd your journal

Journals / Haydarpaşa Numune Eğitim ve Araştırma Hastanesi Tıp Dergisi / 2017 / Cilt: 57 - Sayı: 3

A Rare Case: Kabuki Make-Up Syndrome

Nadir Bir Olgu: Kabuki Make-Up Sendromu

Fatih AKIN
Abdullah YAZAR
Dursun ODABAŞ
Esra TÜRE
Ayşe Gül ZAİMOĞLU
Pages
183–185
Publication Date
2022-10-17
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Presently described is the case of a 27-month-old girl who had mental and motor retardation; frontal bossing; arched eyebrows that were sparse in the lateral two-thirds; long palpebral fissures with eversion of the lateral part of the lower eyelid; a broad, depressed nasal root; a beaked nose; large, protuberant, low-set ears; sparse and fragile hair; a high, arched palate; dysmorphic teeth; prominent finger pads; short fifth fingers; and hypertransaminasemia as a contribution to the literature.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Kabuki make-up syndrome (KMS) is a rare syndrome characterized by multiple congenital anomalies and mental retardation.
📊
Key Findings & Data:Its inheritance pattern is not precisely known, but it is thought to be caused by an autosomal dominant inheritance.
💡
Conclusion & Impact:Presently described is the case of a 27-month-old girl who had mental and motor retardation; frontal bossing; arched eyebrows that were sparse in the lateral two-thirds; long palpebral fissures with eversion of the lateral part of the lower eyelid; a broad, depressed nasal root; a beaked nose; large, protuberant, low-set ears; sparse and fragile hair; a high, arched palate; dysmorphic teeth; prominent finger pads; short fifth fingers; and hypertransaminasemia as a contribution to the literature.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Kabuki make-up syndrome (KMS) is a rare syndrome characterized by multiple congenital anomalies and mental retardation. Its inheritance pattern is not precisely known, but it is thought to be caused by an autosomal dominant inheritance. Presently described is the case of a 27-month-old girl who had mental and motor retardation; frontal bossing; arched eyebrows that were sparse in the lateral two-thirds; long palpebral fissures with eversion of the lateral part of the lower eyelid; a broad, depressed nasal root; a beaked nose; large, protuberant, low-set ears; sparse and fragile hair; a high, arched palate; dysmorphic teeth; prominent finger pads; short fifth fingers; and hypertransaminasemia as a contribution to the literature.

Özet

Kabuki make-up sendromu (KMS) multipl konjenital anomaliler ve mental retardasyonla seyreden, kalıtım şekli tam bilinmeyen ancak otozomal dominant bir mutasyonun sebep olduğu düşünülen nadir bir sendromdur. Bu yazıda, mental-motor retardasyon, geniş alın, yukarı doğru kavisli kaş kemeri, lateral 2/3'si dökük kaşı, çekik ve ayrık gözleri, alt göz kapak lateralinde dışa dönüklüğü, basık ve geniş burun kökü, gaga burnu, bilateral geniş ve düşük kulak sayvanları, seyrek ve kırılgan saçları, dar ve yüksek damağı, dismorfik dişleri, belirgin el parmak pulpaları, 5. parmak kısalığı ve karaciğer enzim yüksekliği saptanan 27 aylık bir kız çocuğu literatüre katkıda bulunmak amacıyla sunulmuştur.

🔖

Cite This Article

AKIN, F., YAZAR, A., ODABAŞ, D., TÜRE, E., ZAİMOĞLU, A. G. (2022). A Rare Case: Kabuki Make-Up Syndrome. Haydarpaşa Numune Eğitim ve Araştırma Hastanesi Tıp Dergisi, Cilt: 57 - Sayı: 3, 183–185. https://ajindex.com/articles/535243

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (11)

  1. Kuroki Y, Suzuki Y, Chyo H, Hata A, Matsui I. A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. J Pediatr 1981;99:570-3
  2. Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T. Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr 1981;99:565-9
  3. Matsumoto N, Niikawa N. Kabuki make-up syndrome: a review. Am J Med Genet C Semin Med Genet 2003;117C:57-65
  4. Hughes HE, Davies SJ. Coarctation of the aorta in Kabuki syndrome. Arch Dis Child 1994;70:512-4
  5. Franceschini P, Vardeu MP, Guala A, Franceschini D, Testa A, Corrias A, et al. Lower lip pits and complete idiopathic precocious puberty in a patient with Kabuki make-up (Niikawa-Kuroki) syndrome. Am J Med Genet 1993;47:423-5
  6. Kokitsu-Nakata NM, Vendramini S, Guion-Almeida ML. Lower lip pits and anorectal anomalies in Kabuki syndrome. Am J Med Genet 1999;86:282-4
  7. Donadio A, Garavelli L, Banchini G, Neri G. Kabuki syndrome and diaphragmatic defects: a frequent association in nonAsian patients? Am J Med Genet 2000;91:164-5
  8. Schrander-Stumpel CT, Spruyt L, Curfs LM, Defloor T, Schrander JJ. Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management. Am J Med Genet A 2005;132A:234-43
  9. Courtens W, Rassart A, Stene JJ, Vamos E. Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome. Am J Med Genet 2000;93:244-9
  10. Hannibal MC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillin MJ, et al. Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. Am J Med Genet A 2011;155A:1511-6
  11. Miyake N, Mizuno S, Okamoto N, Ohashi H, Shiina M, Ogata K, et al. KDM6A point mutations cause Kabuki syndrome. Hum Mutat 2013;34:108-10.