Clinical Genetics 1985: 28: 251-254

Cortical blindness, growth and psychomotor retardation and postaxial

polydactyly: A probably distinct autosomal recessive syndrome

ALEJANDRO HERNANDEZ, LIDIA GARC~A-ESQUIVEL, MARTHA CELINA REYNOSO, RUBEN FRAGOSO, MIGUEL ANGEL ENR~QUEZ-GUERRA, ZAMIRA NAZARA, MIGUEL BRACAMONTES ANZAR AND JOSE M A R ~ A

CANTU Division de Genetica, Subjefatura de Investigacion Cientifica, Unidad de Investigacibn Biomtdica,

Hospital de Especialidades y Hospital de Pediatria, Centro Medico de Occidente, Instituto Mexican0 del Seguro Social, Guadalajara, Jalisco, Mexico

A 14-month-old female infant with a syndrome mainly consisting of cortical blindness, psycho- motor retardation and postaxial polydactyly (type B in hands and type A in feet) was studied. Two deceased sibs were similarly affected. Differential diagnosis and the review of medical literature permit the individualization of a distinct syndrome with a probable autosomal recessive pattern of inheritance.

Received 11 February, accepted for publication 21 May 1985

Key words: Autosomal recessive; blindness; polydactyly; psychomotor retardation; syndrome.

The purpose of this paper is to describe three sibs affected with cortical blindness, growth and psychomotor retardation and postaxial polydactyly, suggesting a distinct autosomal recessive disorder.

cal examination at 14 months of age (Fig. 2a) revealed weight 7800 g, height 73 cm and head circumference 44 cm (all values below the third percentile). A prominent

I Case Report Q

The proposita (Fig. 1, IV-9), was born by caesarean section because of breech presen- tation and fetal distress after 38 weeks of gestation. Birthweight was 1900 g. At birth, intrauterine delayed growth and polydac- tyly in both hands and feet were noted.

I I

111

I Psychomotor retardation and blindness were noticed at three months of age. In the first year of life she suffered from recurrent

Iv

respiratory and intestinal infections. Physi- Fig. I. Pedigree.

252 H E R N A N D E Z E T A L .

forehead, short nose, long philtrum, high arched palate, microretrognathia (Fig. 2b and c), postaxial polydactyly in both hands and feet (Fig. 2d), moderate hypertonia and hyperreflexia and vision impairment, were also observed. Normal ophthalmologic examination indicated a cortical origin of the blindness. Psychomotor evaluation at

19 months of age showed a Development Coefficient of 3 months. Laboratory studies, including blood cell count, screening tests for the detection of inborn errors of metab- olism (Phenistix, glucose oxidase, Millon, anthrone, ferric chloride, dinitrophenylhy- drazine, nitrosonaphthol, acid albumin tur- bidity, cetyltrimethylammonium, methyl-

Fig. 2. The proposita, IV-9, at 14 months of age. a) General apperance; b, c) Note prominent forehead, short nose, long philtrum and rnicroretrognathia; d) Postaxial polydactyly in feet.

B L I N D N E S S A N D P O LY D A C T Y LY S Y N D R 0 M E 253

malonic acid, Benedict, cyanide nitroprussi- de), plasma and urine chromatography for amino acids and sugars, and G-banded ka- ryotype, yielded results within normality.

X-ray studies disclosed an unarticulated postaxial extra digit in both hands and a well-formed supernumerary sixth digit join- ted to the fifth metatarsal bone in feet. A skull computer-assisted tomography showed no abnormality.

Family Data A deceased sister, (Fig. 1, IV-1; Fig. 3), born at 34 weeks of gestation, weighing 2000 g, also presented recurrent respiratory and in- testinal infections, blindness, severe psycho- motor and growth retardation and post- axial polydactyly in hands and feet. She died at 20 months of age from acute gastro- enteritis. A brother (Fig. 1, IV-6; Fig. 4), born at 36 weeks of gestation, weighing 1800 g, was also considered affected by in- direct ascertainment. Since birth, intrau- terine delayed growth and postaxial poly- dactyly in hands and feet were noted. Blind- ness and recurrent respiratory and intestinal

infections were evident about the 3rd month of age and 2 months later he died from complications of acute gastroenteritis; at this time he had no head support.

The healthy father and mother (Fig. 1, 111-1 and 111-2), aged 29 and 26 years, re- spectively, at the proposita’s birth, were first cousins (F 1 : 16). Cytogenetic analysis and limbs X-ray examination in both, were nor- mal. Two sibs were healthy and there were no other similarly affected relatives. The mother had one obitus and three first-trime- ster spontaneous miscarriages.

Discussion

The clinical features observed in the propo- sita and indirectly ascertained in her two

Fig. 3. IV-1 at 18 months of age. Note the facial simi- larity with the proposita and the severe growth retar- dation.

Fig. 4. IV-6 at 3 months of age. The prominent forehead, short nose, long philtrum, microretrognathia and psy- chomotor retardation are illustrated.

254 H E R N A N D E Z E T A L

deceased sibs mainly consist of intrauterine and postnatal growth retardation, congeni- tal total cortical blindness, postaxial poly- dactyly, and psychomotor retardation. This association has never been reported in medi- cal literature. However, differential diag- noses included a wide group of hetero- geneous syndromes, mostly those showing polydactyly, i.e. oral-facial-digital syn- dromes (Gustavson et al. 1971, Sugarman et al. 1971, Temtamy & McKusick 1975, Townes et al. 1976), Bardet-Biedl syndrome (Grebe 1953, Schachat & Maumenee 1982), congenital hamartoblastoma (Hall et al. 1980), hypopituitarism and postaxial poly- dactyly (Culler & Jones 1984), and the dif- ferent forms of cortical blindness (McKu- sick 1983). Therefore, it seems reasonable to conclude that the present aggregate of anomalies constitutes a distinct syndrome. Facial features could be part of the syn- drome. However, no precise delineation is possible with the available data. The par- ental consanguinity, the presence of the syn- drome in three sibs and in both sexes, and the lack of affected members from previous generations, strongly suggest an autosomal recessive pattern of inheritance.

Acknowledgments

The authors wish to thank Armando Alcar- za for the art work, and Maria Eugenia Goiii for her secretarial assistance.

References

Culler, F. L. & K. L. Jones (1984). Hypopituitar- ism in association with postaxial polydactyly. J. Pediatr. 104, 881-884.

Grebe, H. (1953). Contribution au diagnostic differential du syndrome de Bardet-Biedl. J . Genet. Hum. 2, 127-144.

Gustavson, K. H., A. Krenger & P. 0. Petersson (1971). Syndrome characterized by lingual mal- formation, polydactyly, tachypnea, and psy- chornotor retardation (Mohr syndrome). Clin. Genet. 2, 261-266.

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McKusick, V. A. (1983). Mendelian Inheritance in Man, 6th Edit. Baltimore, Johns Hopkins University Press.

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Sugarman, G. I., M. Katakia & J. H. Menkes (1971). See-saw winking in a familial oral-fa- cial-digital syndrome. Clin. Genet. 2, 248-254.

Temtamy, S. A. & V. A. McKusick (1975). The Genetics of Hand Malformations. New York, National Foundation-March of Dimes.

Townes, P. L., B. P. Wood & J. V. McDonald (1976). Further heterogeneity of the oral-facial- digital syndromes. Am. J. Dis. Child. 130, 548.

Address: Alejandro Herncindez, M.D. Divisibn de Genitica, Unidad de Investigacibn Biomidica, Centro Mkdico de Occidente, Instituto Mexican0 del Seguro Social Apartado Postal 1-3838 Guadalajara, Jalisco Mexico