Lower lip pits and complete idiopathic precocious puberty in a patient with Kabuki make‐up (Niikawa‐Kuroki) syndrome

Abstract

We report on a 13 1/2-year-old patient with Kabuki make-up syndrome and complete idiopathic precocious puberty manifested at 7 1/2 years. In addition to the other specific clinical signs, she showed hypodontia and lower lip pits, as typically seen in the Van der Woude syndrome. The significance of lower lip pits in the Kabuki make-up syndrome is discussed.

Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q41

“…She also had hypodontia and a cleft soft palate, manifestations common to KMS and VWS. To our knowledge, four such patients, including ours, are known [Franceschini et al, 1993;Kokitsu-Nakata et al, 1999;G. Oliveira, personal communication].…”

“…The VWS1 critical region (VWCR1) was confined to a segment between markers D1S245 and D1S414 [Sander et al, 1995]. Franceschini et al [1993] reported a KMS patient whose additional manifestations were consistent with VWS. This led us to hypothesize that the presence of the two syndromes in an individual was caused by a microdeletion spanning two putative, contiguously located KMS and VWS genes.…”

A Rare Case: Kabuki Make-Up Syndrome

“…Kardinal belirtiler kadar sık olmayan diğer anomaliler ise eklem gevşekliği, rekürren otitis media, kardiyovasküler anomaliler, renal ve/veya ürogeni-tal anomaliler, biliyer atrezi, diyafragma hernisi, anorektal anomaliler, konjenital hipotiroidi, idiyopatik trombositopenik purpura, otoimmun hemolitik anemi, puberte prekoks, hipogamaglobulinemi, diş ve tırnak anomalileri, tip 1 diyabetes mellitus, epilepsi ve ana hava yollarında obstrüksiyon olarak belirtilmektedir [4][5][6][7][8] . Bazı vakalarda ektodermal anormallikler saptanmış olup, saçın mikroskobik incelemesinde trikoreksis nodosa tespit edilmiştir [9] .…”

Language Delay Revealing a Kabuki Syndrome: Case Report and Literature Review

“…Endocrine disorders are multiple, deficiency in growth hormone [23] is frequent, and it is to seek when we have short stature smaller than -3DS and recurrent hypoglycemia [24]. The occurrence of early puberty [25,26] is found in 25-43% of cases. Thyroid disorders (hypo-or hyperthyroidism) and the LH deficiency are possible but uncommon.…”