Humangenetik 17, 271--272 (1973) © by Springer-Verlag 1973

K u r z e O r i g i n a l m i t t e i l u n g e n • S h o r t C o m m u n i c a t i o n s

C o m m u n i c a t i o n s b r ~ v e s

Synopsis of Mammo-Renal Syndromes. II

L. Goeminne

Medical Clinic, Deinze, Belgium

Received November 3, 1972

In a previous provocative paper we draw attention to some new clinical entities, with associated congenital abnormalities of breasts and kidneys (Goe- minne, 1972).

In some other rare dysmorphie syndromes of multiple primary congenital defects, associated breast and renal anomalies may occur as frequent or accessory features (Tables 1 and 2). Ear anomalies are also frequent in these syndromes.

Table 1 Dysmorphic syndromes of multiple primary defects with associated mammo-renal anomalies

A. Chromosomal abnormality syndromes 1. 18-Trisomy Syndrome. Small, widely spaced nipples in 50o/o of cases. Horseshoe kidneys,

ectopic kidneys and double ureter in 10--50°/o of eases. 2. 18-Long Arm Deletion Syndrome. Widely spaced nipples and horseshoe kidneys are

occasional features.

B. Unusually small stature with associated defects 3. Cornelia de Lange Syndrome. ttypoplastic nipples and various renal anomalies axe not

seldom.

C. Genital anomalies with associated defects 4. Smith-Lemli-Opitz Syndrome. Widely spaced nipples and dilated renal calyces may occur. 5. ~raser Syndrome (cryptephtalmos). Widely spaced nipples and urinary tract anomalies

are occasional features. 6. O1]acto-genltal Syndrome (Kallmann syndrome). In this hypogonadotropic hypogonad-

ism with anosmia syndrome, breast hypoplasia, horseshoe kidney and unilateral renal agenesis are occasional features.

Table 2

Ear Breast and Renal anomaly nipple anomaly anomaly

1. 18-trisomy syndrome 2. 18-long arm deletion syndrome

3. Cornelia de Lange syndrome

4. Smith-Lemli-Opitz syndrome 5. Fraser syndrome 6. Olfacte-genital syndrome

frequent frequent frequent frequent occasional frequent

occasional frequent (occasional)

frequent occasional occasional frequent occasional occasional (occasional) occasional occasional

272 L. Goeminne: Synopsis of Mammo-Renal Syndromes. I I

The exac t incidence of these signs is unce r t a in as on ly a r e s t r i c t ed n u m b e r of t he cases a re on record a t t he m o m e n t (McKusiek, 1971 ; Smith , 1970).

References

Goeminne, L. : Synopsis of mammo-renal syndromes. Humangenetik 14, 170 (1972). McKusick, V.A.: Mendelian inheritance in man, 3rd Ed. Baltimore: Johns Hopkins Press

1971. Smith, D. W. : Recognizable patterns of human malformation. Philadelphia: Saunders 1970.

Dr. Luc Goeminne Medical Clinic B-9780 Zulte, Belgium