Table 3 Distribution of associated abnormalities

Body asymmetry

Discrepancy in the girth and/or length of extremities, and hypo/hypertrophy of trunk and face.

183 (37.7%)

38 (7.8%)

264 (54.4%)

Neurological defects

Developmental delay, seizures, epilepsy, brachy plagiocephaly, cerebral atrophy, arteriovenous malformation of the brain, mental retardation, transient ischemic attack, triventricular hydrocephalus, corpus callosum agenesis, white matter calcification, hemiparesis, hemispheric vascular anomaly, hearing impairment, dyscrania, microcephalia, and porencephaly.

49 (10.1%)

57 (11.8%)

380 (78.4%)

Ophthalmological defects

Glaucoma, blue pigmentation on the sclera, cornea and conjunctiva, retinal vascular abnormalities, retinal detachment, amblyopia, and retinoblastoma.

48 (9.9%)

53 (10.9%)

385 (79.4%)

Cardiovascular defects

Cardiac malformation, predominantly atrial-septal defect and patent ductus arteriosus, hypertension, and sinus arrhythmia.

25 (5.2%)

31 (6.4%)

430 (88.7%)

Mongolian spots

Blue spots.

22 (4.5%)

2 (0.4%)

462 (95.3%)

Dysmorphic features

Syndactyly, micrognathia, widely spread toes, hypertelorism, frontal bossing, flat face, low-set ears, club foot, cleft palate, and epicanthal folds.

16 (3.3%)

6 (1.2%)

464 (95.7%)

Genitourinary defects

Hypospadias, double ureter, undescended testis, hydrocele, cryptorchidism, urethral obstruction, and clitoral/urethral meatus agenesis.

12 (2.5%)

1 (0.2%)

473 (97.5%)

Abdominal defects

Hepatosplenomegaly, imperforate anus, neonatal ascites, gastro-oesophageal reflux, and malrotated bowel.

11 (2.3%)

22 (4.5%)

453 (93.4%)

Nephrological defects

Hydronephrosis, renal hypoplasia, and multi-cystic renal disease.

10 (2.1%)

11 (2.3%)

465 (95.9%)

Endocrinological defects

Hypothyroidism, hyperlipidaemia, and abnormal copper metabolism.

5 (1.0%)

5 (1.0%)

476 (98.1%)