AARSKOG SYNDROME

TOHRU SHINKAWA, M.D.

YOSHIZUMI YAMAUCHI, M.D.
YUKIO OSADA, M.D.
NOBUYUKI ISHISAWA, M.D.

From the Departments of Urology and Pediatrics,

Miyazaki Medical College, Kiyotake-cho, Miyazaki, Japan

ABSTRACT-A rare case of Aarskog syndrome is presented. The Aarskog syndrome is character-
ized by short stature with typical facial, digital, and genital anomalies.

Aarskog syndrome is characterized by short era1 blood showed a 46, XY pattern. Serum
stature associated with typical facial, digital, growth hormone, serum thyroxine, and urine
and genital anomalies. Since Aarskog’ first 17-ketosteroids determinations were normal, A
described facial-digital-genital syndrome in diagnosis of Aarskog syndrome was established
1970, 25 cases have been reported. We present because of these findings.
another case. Bilateral orchidopexy was done. The size of
the testes was almost normal.
Case Report
A five and one-half-year-old boy was re-
ferred to the hospital because of short stature
and bilateral undescended testes. His parents
were of average build and nonconsanguineous.
An elder sister was normally developed. He was
the product of a normal pregnancy and de-
livery. His birth weight was 3,350 Gm, and
FIGURE 1. (A) Short
height was 49 cm. stature and round face
He was admitted for further evaluation. His with several characteris-
height was 101 cm, 7 cm less than average. tic findings. (B and C,
Round face, hypertelorism, antimongoloid facing v-w). (4 HYPOP-
palpebral slant, ptosis, short stubby nose with lasia and clinodactyly of
anteverted nostrils, and long marked philtrum jijth finger with single
with broad upper lip were observed (Fig. 1A). ventral crease. (C) Scro-
Short fingers, mild syndactyly, hypoplasia, and tum was cleft and scro-
clinodactyly of fifth finger with a single ventral tal skin fold extended
crease were observed (Fig. 1B). The scrotum ventrally around base of
penis.
was cleft, and the scrotal skin fold extended
ventrally around the base of the penis (Fig. 1C).
The testes were undescended and palpated in
the groins. Mental development was normal.
The bone age was retarded (27 months, less
than standard). Karyotype analysis of periph-

624 UROLOGY / DECEMBER1983 / VOLLJMEXXII,NUMBERf?

 TABLE I. Characteristic findings * in Aarskog syndrome4
stature Short +
Face: Round +
Hypertelorism +
Antimongoloid slanting of the palpebral fissures +
Ptosis +
Maxillary hypoplasia
Broad nasal bridqe +
Short stubby nose with anteverted nostrils +
Long philtrum +
Linear dimple inferior to lower lip
Dental malocclusion
(Widow's peak) -
Ears: Fleshy ear lobes --__
(Malrotatlon)
(Thickened and downturned superior helices)
Genitals: Scrotum cleft or bifid with scrotal folds encircling +
the penis ventrally
Inquinal hernia
Cryptorchidism +
Hands: Short fingers +
Clinodactyly of fifth finger +
Hypermobility of joints with peculiar positioning
of fingers
Mild syndactyly +
Camptodactyly
Simian creases +
(Short thumbs with limited abduction)
Feet: Broad, flat, turned in
Toes splayed with bulbous tips
Others: Pectus excavatum
Mild mental retardation
-___ (Protruding umbilicus)
Roentqenoqrams: Cervical spine abnormalities
Maxillary hypoplasia
(Hypoplasia of terminal phalanges of fingers) -
(Spina bifida occulta)
(Short nasal spine)
(Fusion of middle and distal phalanges of fifthe toe) -
(Hypoplastic middle phalanges of toes)
/
*Parentheses indicate characteristics have been seen only in one family.

UROLOGY i DECEMBER 1983 i VOLUME XXII, NUMBER 6 625

 Comment are observed in facies, hands, and genitals.
Short stature was observed in all cases. Sugar-
Aarskog in 1970’ first described a syndrome
man, Rimoin, and Lachman4 presented a table
in 7 men of a family characterized by short stat-
of the findings in Aarskog syndrome. Our case
ure, peculiar facies, a saddle abnormality of the
satisfied most of the characteristics of the syn-
scrotum, and abnormalities of the hands and
drome (Table I).
feet. Scott2 reported the second family with the
same abnormalities. The facial-digital-genital Kiyotake-cho, Miyazaki 889-16, Japan
(Aarskog) syndrome has been reported in af- (DR. SHINKAWA)
fected males of several families3-‘j In addition to
References
2 cases by Bartsocas and Dimitriou’ and
Melnick and Shildqs 25 cases have been re- 1. Aarskog D: A familial syndrome of short stature associated
with facial dysplasia and genital anomalies, J Pediatr 77: 856
ported. (1970).
X-linked semidominant mode of inheritance 2. Scott CI Jr: Unusual facies, joint hypermobility, genital
anomaly and short stature: a new dysmorphic syndrome, Birth
is suggested by the findings in the pedigrees
Defects 7: 240 (1971).
with partially affected obligate carrier 3. Furukawa CT,‘Hall BD, and Smith DW: The Aarskog syn-
women.1-4 On the other hand, autosomal domi- drome. I Pediatr 81: 1117 (19721.
nant inheritance with partial expression in the 4. Srrgarman GI, Rimoih DL, and Lachman RS: The facial-
digital-genital (Aarskog) syndrome, Am J Dis Child 126: 248
female has not been excluded. (1973).
Chromosomal analyses were performed in 13 5. Funderburk SJ, and Crandall BF: The Aarskog syndrome in
cases.1-3,5 All had normal karyotype. Serum three brothers, Clin Genet 6: 119 (1974).
6. Archibald RM, and German J: The Aarskog-Scott syndrome
growth hormone,1,2,4,8 serum thyroxine,5x8 and in four brothers, Birth Defects 11: 25 (1975).
urine 17-ketosteroids determination* were nor- 7. Bartsocas CS, and Dimitriou JK:,II-Aarskog-Scott syndrome
of unusual facies, joint hypermohility, genital anomaly and short
mal.
stature, ibid. 11: 453 (1975).
It is called the facial-digital-genital syndrome 8. Melnick M, and Shilds ED: Aarskog syndrome: new oral-
because most of the characteristic abnormalities facial findings, Clin Genet 9: 20 (1976).

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