Academic journal article Genetic Counseling

Anorectal Anomalies, Diaphragmatic Defect, Cleft Palate, Lower Lip Pits, Hypopigmentation and Hypogammaglobulinemia a in Kabuki Syndrome: A Rare Combination

Academic journal article Genetic Counseling

Anorectal Anomalies, Diaphragmatic Defect, Cleft Palate, Lower Lip Pits, Hypopigmentation and Hypogammaglobulinemia a in Kabuki Syndrome: A Rare Combination

Article excerpt

Summary: Anorectal anomalies, diaphragmatic defect, cleft palate, lower lip pits, hypopigmentation and hypogammaglobulinemia A in Kabuki syndrome: a rare combination: We report a rare combination of anomalies in an Egyptian girl with Kabuki syndrome (KS). The 26-month-old girl had imperforate anus with rectovestibular fistula, diaphragmatic defect, congenital heart defects, cleft palate, lower lip pits, hypopigmentation, seizures, hypogammaglobulinemia A, hyperlaxity of joints and premature breast development. This unique combination of anomalies, proposes to carefully investigate cases with KS patient in an attempt to determine their real frequency and in order to improve clinical management. Further, it raises a question about factors determining the variability in phenotypic expression among cases with KS. To our knowledge, this is the first case of KS to be reported from Egypt.

Key-words: Kabuki syndrome - Imperforate anus - Hypopigmentation - Diaphragmatic defect - Lower lip pits - Egyptian girl - Cleft palate - Seizures - Premature breast development.

INTRODUCTION

The Kabuki syndrome (KS, MIM 147920) is a multiple congenital malformations/mental retardation syndrome of unknown cause. First described independently by, Niikawa and Matsuura and Kuroki et al. (13, 19). These authors described 10 Japanese patients, who had characteristic facial features (long palpebral fissures with lateral eversion of the lower eyelids, arched eyebrows, depressed nasal tip, prominent ears), skeletal anomalies (short or curved fifth fingers, deformed vertebrae, and hip dislocation), dermatoglyphic abnormalities (fingertip pads, and increased ulnar loops), short stature, and mental retardation. The designation "Kabuki make-up" syndrome was given because the facial features bear resemblance to the make-up used by "Kabuki" (traditional Japanese theatre) actors (13, 19). For the purpose of counseling parents, the term "Kabuki" syndrome was preferred, since; the addition of "Make-up" may be confusing. The first cases were reported in Japan. The syndrome was then recognized in patients of non-Japanese origin (2, 21, 25). Some ethnic differences may exist between the phenotype of Japanese and non-Japanese KS patients, but the previously described five cardinal manifestations, are constant findings (25). There is an increasingly wide range of phenotypic abnormalities and broadening of the developmental fields of defects. Dental anomalies, hyperlaxity of joints and susceptibility to infection were considered frequently associated features. Cardiac, hepatic and renal malformations, ophthalmologic anomalies, hip dislocation, endocrinologic, and immunologic/hematologic abnormalities and deafness were less frequently reported. Lower lip pits with or without cleft palate, anorectal anomalies, ectodermal dysplasia, vitiligo, hypopigmentation, intestinal malrotation, diaphragmatic defects, chronic and/or severe diarrhea including celiac disease, persistent hypoglycemia, pseudarthrosis of the clavicles, central nervous system anomalies and seizures were rare anomalies that have been described independently (3, 6, 7, 8, 10, 12, 20, 21, 22, 31). This phenotypic and genetic heterogeneity influences estimates of feature frequencies but complicates efforts to identify an etiology.

The mode of inheritance is thought to be autosomal dominant in which nearly each patient represents a fresh mutation was suggested by Kuroki et al. (13) because of an even sex ratio and negligible consanguinity rate among the parents. This was also favored by Niikawa et al. (20) and Ilyina et al. (10), in view of the presence of facial resemblance in parents and/or relatives of some patients. Several chromosomal aberrations have been found, but none of them seems to be specific to KS (18, 23). We present another sporadic patient with typical KS who also has a unique constellation of associated anomalies, including imperforate anus with rectovestibular fistula, cleft palate, congenital heart defects, lower lip pits, diaphragmatic defect, hypopigmentation, seizures, hyperlaxity of joints, hypogammaglobulinemia A and premature breast development. …

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