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

From: A newborn with Cornelia de Lange syndrome: a case report

Clinical features frequency in CdLS 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%) +