American Journal of Medical Genetics 53:386487 (1994)

Letter to the Editor

Congenital Heart Defect in a Patient With the Hallermann-Streiff Syndrome

lb the Editor:

We read an interesting article by Cohen [19911 on a review of the Hallermann-Streiff syndrome (HSS) and they described that only 2-9% of patients with HSS were complicated with congenital heart defects (CHD) (Table I). We report here another HSS patient associated with CHD.

The patient, a Japanese boy, was the second child of healthy, unrelated parents (father aged 25 years and mother 22 years). Family history was unremarkable. He was born at 37 weeks of gestation with birth weight of 2,825 g and length of 47.4 cm. He had some charac- teristic clinical manifestations including small face, frontal bossing, microphthalmia, antimongoloid slant, thin nose with hypoplastic nasal alae, hypoplastic mandible, small mouth, micrognathia, high arched palate, and neonatal tooth (Fig. 1). His somatic growth was significantly poor and he had mild mental retarda- tion. Ophthalmological examination showed bilateral

small cornea, congenital cataract of the left eye, and iris coloboma of the right eye. Congenital contracture of bi- lateral knee and hip joints were noted at birth. In addi- tion, the child had a ventricular septal defect (6 cm) shown by echo-cardiography.

HSS is a well-delineated malformation syndrome characterized by craniofacial dysostosis, ophthalmic and skeletal defects, and severe growth failure [Francois, 19581, but other associated manifestations have been re- ported occasionally. Since Dinwiddie et al. [1978] re- ported three patients with HSS associated with heart anomalies, including valvular PS, ASD, VSD, and tetralogy of Fallot, an HSS patient with CHD has not been implicated in the literature. This then case is the fourth case associated with CHD. Upper airway obstruc- tion due to small nares and micrognathia, and recurrent respiratory tract infections, are important problems and sometimes can be life-threatening, as in cor pulmonale

TABLE I. Hallermann-Streiff Syndrome With Congenital Heart Defect

Dinwiddie e t al. [1978] Present

1 2 3 case

Sex F F M M Bird facies + + + + Growth failure + + + + Cataract + + + + Dental anomalies + + + + Cardiac abnormalities Valvular PS, Valvular PS, Tetralogy VSD

PS: pulmonary stenosis; PDA. patent ductus arteriosus; VSD: ventricular septal defect; ASD: atrial septal defect.

Hypoplastic mandible + + + +

Microphthalmia + + + + Hypotrichosis + + + -

ASD PDA, VSD of Fallot

Received for publication February 14, 1994; revision received June 16,1994.

Address reprint requests to Kiyoshi Imaizurni, M.D., Division of Medical Genetics, Kanagawa Children’s Medical Center, Mut- sukawa, 2-138-4, Minami-ku, Yokohama, 232, Japan.

0 1994 Wiley-Liss, Inc.

Fig. 1. Facial manifestations of the patient, age 3 years: A) frontal view. B) Profile view, showing small palpebral fissures, beaked nose, malar hypoplasia, small mouth, and severe micrognathia.

[Robinow, 19911. CHD, then, can be an important com- plicated manifestation in patients with HSS.

Letter to the Editor 387

REFERENCES Cohen MM (1991): Hallermann-Streiff syndrome: A review. Am J Med

Genet 41:488-499. Dinwiddie R, Gewitz M, Taylor JFX (1978): Cardiac defects in the

Hallermann-Streiff syndrome. J Pediatr 92:77-78. Francois M J (1958): A new syndrome: Dyscephalia with bird face and

dental anomalies, nanism, hypotrichosis, cutaneous atrophy, microphthalmia and congenital cataract. Arch Ophthalmol 60: 842-862.

Robinow M (1991): Respiratory obstruction and car pulmonale in the Hallermann-Streiff syndrome. Am J Med Genet 41:515-516.

Kiyoshi Imaizumi Yoshio Makita Mitsuo Masuno Yoshikazu Kuroki Division of Medical Genetics Kanagawa Children’s Medical Center Yokohama, Japan