American Journal of Medical Genetics 43:789-790 (1992)

Autosomal Recessive Acrorenal Syndrome Miklos Miltbnyi, Andrew E. Czeizel, Lidia Balogh, and ZoltAn Detre Departments of Pediatrics (M.M., L.B.) and Pathology (Z.D.), Semmelweis Medical University, and Department of Human Genetics and Teratology, WHO Collaborating Centre for the Community Control of Hereditary Diseases, National Institute of Hygiene (A.E.C.), Budapest, Hungary

We describe two sibs with tetraectrodactyly and oligomeganephronic renal hypoplasia. The parents were unaffected. This syndrome of apparently autosomal recessive origin ap- pears to be the first Mendelian form of the acrorenal developmental field defect identi- fied SO far. o 1992 Wiley-Liss, Inc.

KEY WORDS: split handlfoot, oligomega- nephronic renal hypoplasia, new syndrome

INTRODUCTION Previously we reported on a boy with a new type of

acrorenal syndrome including tetraectrodactyly, coarc- tation of the aorta, and bilateral renal hypoplasia with- out chromosome abberration [Miltenyi et al., 19841. The renal biopsy showed oligomeganephronic hypoplasia. The patient died at age 27 months of renal insufficiency.

Two years later (in 1983) the mother gave birth to a healthy girl without any malformation. However, in 1986 another girl was born with this disorder.

CLINICAL REPORT The girl was born in July 1986 with a birth weight of

3,000 g in the 40th gestational week. Pregnancy history was unremarkable. There was no consanguinity be- tween the parents. The mother was born in 1953 and was treated for abnormal menstrual periods and an ovarian cyst when she was 17-19 and 21 years old re- spectively. The father was born in 1956. Renal or uri- nary tract malformation could not be detected in the parents.

Roentgenograms of the hands and feet are shown in Figures 1 and 2. On both hands only the 4th and 5th fingers are present with clinodactyly of the latter one. Rudiments of the 3rd fingers consist of proximal pha- langes; the second ray consists of only a metacarpal with

Received €or publication March 27, 1991; revision received No- vember 7, 1991.

Address reprint requests to Mikl6s Miltenyi, M.D., Department of Pediatrics, Semmelweis Medical University, 1083 Budapest, B6kay J. u. 53, Hungary.

0 1992 Wiley-Liss, Inc.

a rudimentary phalanx on the left. The first radial ray is absent on both sides. Both feet had a typical lobster claw malformation involving only the first and fifth rays; however, the middle phalanx is absent in the great toes and the middle and distal phalanges in the 5th toes. Renal biopsy showed oligomeganephronic hypoplasia (Fig. 3). The girl has developed chronic renal failure; since 1990 she needs chronic peritoneal dialysis. Other abnormalities (e.g., ectodermal dysplasia, congenital cardiovascular malformations) were not observed; her karyotype is normal (46,XX). Her intellect is normal.

DISCUSSION The acrorenal field defect of ectrodactyly and urinary

tract malformations was first described by Dieker and Opitz [19691. This case and later cases were sporadic. Here the parents had 2 children affected with an autoso- ma1 recessive acrorenal syndrome. Bilateral oli- gomeganephronic hypoplasia caused renal insuffkiency since birth, progressing to terminal renal failure within a few years.

Fig. 1. Hand radiographs

790 Milthyi et al.

REFERENCES Dieker H, Opitz JM (1969): Associated acral and renal malformations.

Birth Defects 5(3):68-77. Miltenyi M, Balogh L, Schmidt K, Detre Z, Hernady T, Czeizel A

(1984): A new variant of the acrorenal syndrome associated with bilateral oligomeganephronic hypoplasia. Eur J Pediatr 142:40-43.

Fig. 2. Radiographs showing ectrodactyly of the feet.

Fig. 3. Renal histology. Upper part shows a meganephron while the lower part shows a normal nephron.