Copvri,qhr 0 Munksguord I Y Y 6

CLINICAL GENETICS lSSN 0009-9l63

Letter to the Editor

Congenital heart defect and conductive hypgacusia in a patient with the KBG syndrome

Clin Genet 1996: 50: 278-279.0 Munksgaard, 1996

To the Editor: The cardinal features of the KBG syndrome are short stature, mental retardation, peculiar facies and dento-skeletal anomalies cardinal features (Herman et al. 1975). Only three families have been reported in the literature (Herman et al. 1975, Parloir et al.

Fig. 1. Craniofacial appearance.

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Received 18 May, revised received 18 August, 1 accepted 26 September 1995

1977, Fryns et al. 1984, Soekarman et al. 1994). Recently, we had a patient with features compatible with the KBG syndrome. In addition, he presented stenosis of the left pulmonary artery and conductive bilateral hypoacusia. These findings have not previ- ously been associated with this entity.

Our patient was a 15-year-old male, born as the second of four children, after an uncomplicated pregnancy. Delivery was normal. His parents were consanguineous in the second degree. Clinical ex- amination revealed short stature (117 cm), low weight (23 kg), mental retardation, brachycephaly, prominent forehead with low-set hair line, triangu- lar face, synophrys, epicanthus with inner canthal distance 32 mm (50th centile) and outer canthal dis- tance 95 m (75-97th centile), hypertelorism, low- set ears, broad nose with anteverted narines, large philtrum and micrognathia (Fig. 1). Macro-oligo- dontia and incisor-canine diastasis were observed (Fig. 2). Both hands showed transversal palmar

Fig. 2. Dental appearance.

Letter to the Editor

References

Fryns JP, Haspelsagh M. Mental retardation, short stature, mi- nor skeletal anomalies, craniofacial dysmorphism and macro- dontia in two sisters and their mother. Another variant exam- ple of the KBG syndrome? Clin Genet 1984: 263: 69-72.

Herman 1, Pallister PD, Tiddy W, Opitz JM. The KBG syn- drome: A syndrome with short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies. Birth Defects: Original Article Series 1975: Vol XI, No 5: 7- 18.

Parloir C, Fryns P, Deroover J, Lebas E, Goffaux P, Van den Berghs H. Short stature, craniofacial dysmorphism and den- toskeletal abnormalities in a large kindred. A variant of KBG syndrome or a new mental retardation syndrome. Clin Genet

Soekarman D, Volcke P, Fryns JP. The KBG syndrome follow up data on three affected brothers. Clin Genet 1994: 46: 283- 286.

1977: 12: 263-266.

crease, clinodactyly and cutaneous syndactylyl of the second and third toes. Epileptic seizures oc- curred regularly from the age of 4 months to 4 years. Other cardinal signs presented by the patient were conductive bilateral hypoacusia and stenosis of the pulmonary artery. X-rays showed hypoplasia of the 2nd and 3rd phalanges of both hands. Cytoge- netic analysis using G, Q and high resolution band- ing was normal.

Conductive bilateral hypoacusia and stenosis of the left pulmonary artery have not previously been reported, and we consider that these features must be taken into consideration in the KBG syndrome. Although the KBG syndrome is inherited as an au- tosomal dominant disease, in this case second-de- gree consanguinity was observed, suggesting ge- netic heterogeneity.

M. Refugio Rivera-Vega N. Leyva JuArez

Sergio A. Cuevas-Covarmbias Susana H. Kofman-Alfaro

Correspondence: Servicio de GenCtica Hospital General de Mexico, SSa Facultad de Medicina UNAM

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