Academic journal article Genetic Counseling

KABUKI SYNDROME AND TRISOMY 10p

Academic journal article Genetic Counseling

KABUKI SYNDROME AND TRISOMY 10p

Article excerpt

Summary: Kabuki syndrome and trisomy 10p: Kabuki syndrome (KS) (MIM 147920) is a multiple congenital anomalies/mental retardation syndrome of unknown cause. There is multisystem involvement of anomalies, including 1) unique facial features, 2) postnatal growth retardation, 3) mild-to-moderate mental retardation, 4) skeletal anomalies and 5) dermatoglyphic abnormalities. Kabuki syndrome remains a clinical diagnosis despite significant research on detection of the genetic cause. We present 10 patients with Kabuki syndrome with a brief overview of the syndrome. An additional male patient and his affected aunt, both with trisomy 10p due to unbalanced segregation of a familial translocation, are also discussed for overlapping features and differential clinical diagnosis of the two conditions. Considering a significant overlap in clinical pictures of Kabuki syndrome and trisomy 10p in these two patients, as well as the previous patients with chromosomal abnormalities, we conclude that chromosome analysis is an important step in clinical work-up of patients with Kabuki syndrome.

Key-words: Kabuki syndrome - Trisomy 10p

INTRODUCTION

Kabuki syndrome (KS) (MIM 147920) is a multiple congenital anomalies/mental retardation syndrome of unknown cause. The syndrome was first described by Niikawa et al. (13) and Kuroki et al. (7). There is multisystem involvement of anomalies, which include 1) unique facial features, 2) postnatal growth retardation, 3) mild-to-moderate mental retardation, 4) skeletal anomalies and 5) dermatoglyphic abnormalities (12).

We present 10 patients clinically diagnosed as Kabuki syndrome with a brief overview of the syndrome. In addition, an interesting male patient and his affected aunt, both with trisomy 10p due to unbalanced segregation of a familial translocation, are also discussed for differential clinical diagnosis of the two conditions.

PATIENTS

Facial features of the patients are shown in figure 1 . Clinical features are Summarized in table 1.

PATIENT 1

A 20-months-old boy was referred for developmental delay. He was born at 32nd week to healthy non-consanguineous parents. At 3 months, he was operated for ureteropelvic junction obstruction. On admission, his head circumference was 45 cm (3rd-10th centiles) and his height was 77 cm (3rd centile). His karyotype was 46,XY.

PATIENT 2

A 2-years-old female patient was referred for malformations and dysmorphic features. She was born at 37th week with a birth weight of 2200 g (10th centile) to healthy non-consanguineous parents. She was operated for anal atresia on the 6th day and had ventricular septal defect. On admission, she weighed 8500 g and her height was 76 cm (both below 3rd centile).

PATIENT 3

This was a 3-years-old female patient referred for developmental delay. She was bora at term with a birth weight of 2700 g to healthy non-consanguineous parents. Her developmental stages were normal. She had aortic regurgitation and a perimembranous ventricular septal defect. There was bilateral caliectasis. A dorsal dermal sinus ending in the subcutaneous tissue was detected on lumbosacral spinal MRI. On physical examination, her head circumference was 46.5 cm (3rd centile), her weight 9600 g (below 3rd centile) and her height 84 cm (3rd10th centiles). There was a pinch of hair over the lumbosacral region.

PATIENT 4

An 18-months-old female patient was referred for developmental delay. She was bora at term to healthy non-consanguineous parents with a birth weight of 2700 g. Developmental delay and microcephaly were detected at 2 months, and early closure of the anterior fontanel was recognized at 3 months. She achieved social smile at 3 months of age and head control at 7 months of age. At 8 and 10 months of age she was operated for developmental hip dysplasia, after which she had to wear a hip brace, causing a delay in sitting and walking. At 13 months of age, she had seizures needing valproic acid treatment. …

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