Indian Pediatrics 1999; 36:599-601 

CHILD Syndrome

From the Department of Neonatology, KEM Hospital, Parel, Mumbai-400012, India.

Reprint requests: Dr. Rekha H. Udani, C-l/5, 358 Municipal Tenaments, Narayan Pujari Nagar, K.A.G. Khan Road, Worli, Mumbai-400 018, India.

Manuscript received: June 12, 1998; Initial review completed: July 29, 1998; Revision accepted: October 29, 1998.
 

The term CHILD syndrome is used for Congenital Hemidysplasia with Icthyosiform Erythroderma and Limb Defect. This is a rare syndrome with only 30 cases being reported in the world literature(1-5). The rarity of this syndrome and certain additional new clinical findings observed in a newborn baby prompted us to report this case.

Case Report

A female neonate was born of nonconsanguienous marriage at term by spontaneous vaginal delivery to second gravida mother with history of one spontaneous uninvestigated abortion 2 years before at 2 months of gestation. She weighed 1600 grams at birth and had following measurement: length 38 cm, head circumference 31.5 cm and chest circumference 27 cm. Facial dysmorphism was observed in the form of low set and malformed ears and depressed nasal bridge. The left upper and lower extremities were 2 and 2.5 cm shorter than those on right side, respectively. There was postaxial polydactyly in left upper limb and syndactyly in 2nd, 3rd, 4th and 5th toe of left foot. There were contractures at left elbow and knee joints. The skin on left half side of the body was erythematous, atrophic and showing scaling with irregular demarcation in midline on anterior as well as posterior side (Fig. 1). The systemic examination of cardiorespiratory and central Nervous System was normal.

Radiograph of the baby showed slightly hypoplastic radius, tibia and fibula on left side and all extremities were having normal osseous structures. Ultrasonography of skull and abdomen was normal. Two D-Echo- cardiography and Color Doppler study revealed persistent foramen ovale and bilateral peripheral pulmonary artery stenosis. Hearing evaluation study (evoked otoacoustic emissions-EOAE) was normal in both ears. Chromosomal analysis of lymphocytes from peripheral blood revealed normal karyotype.

The neonate was discharged on day 8 of life with advice for exclusive breastfeeding. She has not followed up with us subsequently.



Fig. 1. Neonate with child syndrome showing left side involvement.

Discussion

Two female siblings with this unique pattern of malformation were first reporteed in 1968(2). Various commonly observed abnormalities in this syndrome include mild prenatal growth deficiency limb abnormalities like unilateral hypomelia varying from absence to hypoplasia of some metacarpals and phalanges, webbing of elbows and knees and joint contractures. Skin abnormality includes unilateral erythema and scaling with sharp midline demarcation anteriorly and posteriorly, unilateral alopecia, hyperkeratosis and nail destruction. Various skeletal abnormalities described with this syndrome are ipsilateral hypoplasia of bones involving any part of skeleton including mandible, clavicle, scapula, ribs and vertebrae and punctate epiphysial calcifications. Other abnormalities found are cardiac septal defects, single coronary ostium, single ventricle and unilateral renal agenesis(l).

Occasionally observed abnormalities are ipsilateral hypoplasia of brain, cranial nerves, spinal cord, lung, thyroid, adrenal gland, ovary, and fallopian tube. Mild mental deficiency; mild contralateral abnormalities of skin, bone, and hearing losses were also found in a few cases(l).

The erythema and scaling usually present at birth or may develop during the first few weeks of life. New areas of involvement may occur as late as nine years of age. The face is spared. The right side is more frequently involved than left. Treatment with etretinate, an aromatic retinoid, has been successful in management of skin problems in some cases. All but one affected individuals have been females, raising the possibility of X-linked dominant inheritance; lethal in the hemizygous male(l ).

Certain features that were found in our case but are not described in literature are:

(a) postaxial polydactyly in left upper limb and syndactyly in 2nd, 3rd, 4th and 5th toe of left foot; and (b) bilateral peripheral pulmonary artery stenosis.
CHILD syndrome is clinically similar to Conaradi Hunermann syndrome and rhizomelic chondrodysplasia punctata, disorders that exhibit deficiency of peroxisomal function. The activities of two peroxisomal enzymes were decreased and fewer peroxisomes were present in fibroblasts from a child with CHILD syndrome, suggesting that these three disorders may be related pathologically(6,7).

Acknowledgements

We thank Dr. P.M. Pai, Dean, Seth G.S. Medical College and K.E.M. Hospital for granting permission to publish this report.

 

 References