Table 1 Comparison of clinical features of CdLS in the present case

Prenatal onset growth retardation (68%)

Initial hypertonicity (100%)

Low-pitched weak cry in infancy (74%)

Feeding difficulties in the newborn period and infancy (71%)

Microbrachycephaly (93%)

Bushy eyebrows and synophrys (98%)

Long, curly eyelashes (99%)

Depressed nasal bridge (83%)

Anteverted nares (85%)

Down-turned angles of the mouth (94%)

High arched palate (86%) and reports of cleft palate

Micrognathia (84%)

Spurs in the anterior angle of the mandible, prominent symphysis (66%)

Short neck (66%)

Hirsutism (78%)

Low anterior and posterior hairline (92%)

Hypoplastic nipples and umbilicus (50%)

Micromelia (93%)

Phocomelia and oligodactyly (27%)

Clinodactyly of fifth fingers (74%)

Simian crease (51%)

Proximal implantation of thumbs (72%)

Hypoplastic external genitalia (57%),

Ophthalmologic manifestations (50%)

Cutis marmorata and perioral pale cyanosis (56%)

Seizures (23%)

Congenital Heart Defect (33%)