Spot Diagnosis

Growth Failure with Hemihypertrophy

Seema P Soni, Komal Bijarniya, Deepali Ambike
Department of Pediatrics, Pimpri Chinchwad Muncipal Corporation Post Graduate Institute (PCMC'S PGI), Yashwantrao Chavan Memorial Hospital (YCMH) PIMPRI, PUNE, Maharashtra, India

Address for Correspondence: Dr Komal Bijarniya, PG resident, Department of Pediatrics, Pimpri Chinchwad Municipal Corporation Post Graduate Institute (PCMC'S PGI), Yashwantrao Chavan Memorial Hospital (YCMH) PIMPRI, PUNE, Maharashtra, India.
Email: komalbijarniya281995@gmail.com
Keywords : Silver Russell syndrome, Hemihypertrophy
Question :
A 4-year-old male child born of non-consanguineous marriage, first by birth order presented with growth failure. He was born of cesarean section at full term gestation with birth weight of 1.5 kg. He also had delayed motor development with delayed speech development. There was history of excessive sweating but no documented hypoglycemia. On examination, height was 89 cms [<3rd standard deviation (SD)], weight was 10kgs (< 3rd SD) and body mass index (BMI) was 12.65 (< 3 SD) as per World Health Organization (WHO) growth charts. Right side of his body was less developed as compared to left, the difference ranging from 0.5cm to 1.5cms. He had a limb length discrepancy of 1 cm with right being smaller. Other clinical findings were frontal bossing, arthrogryposis, high arched palate, syndactyly, triangular face, micrognathia, downward slanting of angle of mouth, clinodactyly of little fingers and wide gap between great toe and 2nd toe (Figure 1 and 2). Complete blood count picture of patient showed hemoglobin 7.2 gm/dl, mean corpuscular volume (MCV) 64fl, mean corpuscular hemoglobin concentration (MCHC) 24 g/dl, with peripheral blood smear showing microcytic, hypochromic anemia, suggestive of iron deficiency anemia. Bone age was 1.2 years on radiographs. There was no cardiac lesion on echocardiography.

Figure 1. Wide gap between great toe and 2nd toe.


Figure 2. Triangular face, downward slanting of angle of mouth, hemihypertrophy of left side.


What is the diagnosis?
 
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