Indian Pediatr 2013;50:
Crossed Polydactyly and Greig
R Uppuluri, *K Gowrishankar and L Janakiraman
From Departments of Pediatrics and *Medical Genetics,
Kanchi Kamakoti Childs Trust Hospital, 12-A, Nageswara Road,
Nungambakkam, Chennai, India.
Correspondence to: Dr Ramya Uppuluri, House No. 26,
4th Cross Street, Dhandeeswaram Nagar, Velachery,
Chennai 600 042, India.
Received: March 19, 2013;
Initial review: April 13, 2013;
Accepted: June 07, 2013.
syndrome (GCPS) has been described in literature as one of the rare
genetic diseases, with an incidence of approximately 1-9/ 1,000,000 .
It has not been reported in India till date. GCPS is an autosomal
dominant pleiotropic syndrome with multiple congenital anomalies,
primarily a triad of polysyndactyly particularly crossed polydactyly,
macrocephaly and hypertelorism. We report a case of this extremely rare
disorder, wherein a single clinical feature of crossed polydactyly was
key to diagnosis.
A 1˝-year-old boy, born of nonconsanguinous marriage,
was admitted with complaints of cough, cold, fever, with no significant
past medical or surgical history. On examination, child was stable and
had minimal wheeze on respiratory system examination with no
organomegaly. On further assessment, child was found to be dysmorphic.
He had broad forehead with frontal bossing, broad nasal root, ocular
hypertelorism, large head size i.e. macrocephaly (head
circumference 52cm) which was more than 97th
percentile for his age. Crossed polydactyly was noted i.e.
postaxial polydactyly in his hands and preaxial polysyndactyly of feet.
Outward deviation of great toes (delta phalanx) was also noted (Fig.1).
His anterior fontanelle was open. He was born at full term, normal
vaginal delivery with an uneventful neonatal course. He had attained
appropriate motor and mental milestones for his age. Bone age was within
normal limits. Echo-cardiography, ultrasound of cranium and abdomen were
normal. Family history revealed polydactyly and syndactyly in sister,
mother and maternal grandfather, delta phalanx in mother and
grandfather, suggestive of an autosomal dominant inheritance. There was
no family history of neurological abnormalities.
Fig. 1 Preaxial polysyndactyly with
Delta phalanx .
The above described clinical features with
characteristic finding of crossed polydactyly, the positive family
history and the autosomal dominant pattern of inheritance are suggestive
of Greig cephalopolysyndactyly syndrome. Due to financial constraints,
genetic and mutation studies could not be performed.
Crossed polydactyly is defined as presence of
preaxial polydactyly of hands and postaxial of feet, or postaxial of
hands and preaxial of feet . This finding is found in very few
genetic disorders including Ellis van Creveld syndrome. GCPS is
characteristically associated with this rare feature . The diagnosis
of GCPS requires appropriate clinical features and positive family
history. A presumptive diagnosis can be made when a proband has features
of preaxial polydactyly, cutaneous syndactyly of toes 1-3 or fingers
3-4, ocular hypertelorism, and macrocephaly . Firm diagnosis requires
mutation in GLI3 gene .
The importance of genetic diagnosis is mainly to
facilitate early antenatal detection of recurrence in subsequent
pregnancies. Management involves a multi-disciplinary approach including
surgical and orthopedic consult for polysyndactyly. Majority of children
remain asymptomatic with normal intelligence and activity. Cognitive
impairment if present is usually mild. When not associated with
neurological abnormalities, children with GCPS can lead a normal life
with no decrease in lifespan.
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