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A 15-year-old boy was evaluated for short stature. He was
proportionately short. Height was 137.2 cm (<3rd centile) and weight
was 35 kg (3rd centile). He had a broad forehead, hypertelorism, ptosis,
downslant of eyes, widow’s peak unilateral ptosis, small upturned nose
and simian crease (Fig. 1). His ears were low set with overfolded
margins. He had a crease below the lip. Hands were small with
characteristic swan neck deformity of fingers due to hyperextension at
proximal inter-phalangeal joints and flexion at distal interphalangeal
joints (Fig. 2). He had shawl scrotum and was in stage II of
sexual maturity scale. Echocardiogram and routine blood tests were
normal. This child is a typical case of Aarskog syndrome with all the
primary and most of the secondary diagnostic criteria.
Aarskog Syndrome is a common syndrome of
proportionate short stature described by Aarskog in 1970. The facial
dysmorphic features are subtle but together give a characteristic
appearance. Shawl scrotum without hypoplastic genitalia in a child with
short stature is quite diagnostic of Aarskog syndrome but may be absent
in 20% of cases and the appearance is lost in postpubertal boys. Most
patients are of normal or low normal intelligence, however, mild and
moderate mental retardation may be present in upto 30% of cases. Height
initially is less than third centile, but there is usually some catch-up
growth during puberty, which may be delayed in some cases. Aarskog
syndrome is an X linked disorder and the responsible gene is
faciogenital dysplasia (FGD1) gene on Xp11.21.
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Fig. 1. Face-showing
ptosis of right side, hypertelorism, downslant and widow’s peak. |
Fig. 2. Small hands
with characteristic swan neck deformity. |
Vandana Chaddha,
Shubha R. Phadke
Department of Medical Genetics,
Sanjay Gandhi Postgraduate Institute of Medical
Sciences,
Lucknow 226 014, India.
Correspondence to:
Dr. Shubha R. Phadke
E-mail: [email protected]
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