Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome

Gervasini, Cristina; Picinelli, Chiara; Azzollini, Jacopo; Rusconi, Daniela; Masciadri, Maura; Cereda, Anna; Marzocchi, Cinzia; Zampino, Giuseppe; Selicorni, Angelo; Tenconi, Romano; Russo, Silvia; Larizza, Lidia; Finelli, Palma

doi:10.1186/1471-2350-14-41

BMC Medical Genetics

Table 2 Spectrum of clinical features in CdLS probands carrying imbalances compared to those of classic CdLS probands

From: Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome

Clinical features	CdLS	1	2	3*	4**	4′**
		del(20)(q11.2q12)	del(1)(p36.23p36.22)	der(7)t(7;17)(p22.3;q24.2)	dup(19)(p13.3)	mos dup(19)(p13.3)
Pre-/post-natal growth retardation	IUGR; PNGR	IUGR; PNGR	IUGR; PNGR	PNGR; swallowing difficulties	IUGR	NA
Neurological involvement	Psychomotor/cognitive impairment; hypertonicity/ hypotonia; seizures (25%)	Psychomotor retardation; hypertonicity	Severe psychomotor and intellectual disability.; hyperactivity	Psychomotor and intellectual disability	Hyperactivity; mild intellectual disability; emotional problems	Dyslexia; bulimia
Craniofacial appearance	microbrachycephaly	plagiocephaly	Microcephaly; temporal narrowing	microbrachycephaly
Face	Long and prominent philtrum; micrognathia (80%)	Normal	Long philtrum; micrognathia	Long face; long and prominent philtrum	Long philtrum	Long hypoplastic philtrum
Eyes Eyelashes Eyebrows	Myopia; long curly eyelashes; synophrys; arched eyebrows	Myopic astigmatism; long eyelashes; synophrys	Long eyelashes; synophrys	Long eyelashes; synophrys; large eyebrows	Synophrys	Synophrys
Nose	Depressed/broad nasal bridge; upturned nasal tip; anteverted nares	Columella below alae nasi	Large nasal tip; anteverted nares	Depressed nasal bridge; large columella	NA	NA
Mouth	Thin upper lip; downturned corners of the mouth; high and arched palate; cleft lip/palate	Thin upper lip; downturned corners of the mouth; arched palate	Large mouth; thin upper lip	Thin upper lip; high palate; downturned corners of the mouth	Thin upper lip	Thin upper lip
Ears	Low-set posteriorly rotated and/or hirsute ears; thickened helices	Bilateral hypoplastic helix	NA	Low-set ears	Ear lobe creases	Ear lobe creases
Hair	Hirsutism (>80%); low posterior hairline	Frontotemporal hypertrichosis and truncal hirsutism	Slight hirsutism	Hirsutism	NA	NA
Skeleton	Ranging from severe reduction defects to milder defects such as micromelia, proximally placed thumbs fifth finger clinodactyly, limited elbow extension, syndactyly of the toes, and occasional orthopedic complications (scoliosis)	Normal	Proximally placed thumb; small hands; slight toenail dysplasia	Post-axial polydactyly of left hand and foot#	Clynodactyly of 5th finger	NA
Cardiovascular	Cardiac defects (ASD/VSD, …)	Secundum small atrial septal defect	Mitral valve prolapse	Normal	Normal	NA
Gastrointestinal	Gastroesophageal reflux (30-80%); congenital diaphragmatic hernia (1%)	Feeding problems in the first year of life	Gastroesophageal reflux	Feeding problems in the first years of life	Normal	NA
Breast	Small nipples	Normal	NA	Normal	Polythelia	NA
Other		Thenar and hypothenar hypoplasia; bilateral inguinal hernia; hyperactivity	NA	Cryptorchidism	Scoliosis; cryptorchidism	Monolateral hypoplastic kidney
Age at evaluation		9 years 10 months	12 years	12 years 6 months	10 years	NA

ASD/VSD: atrial septal defect/ventricular septal defect.
IUGR: intra-uterine growth retardation.
NA not assessed.
OFC Occipitofrontal Circumference.
PNGR: post-natal growth retardation.
# not inherited.
* Balanced translocation inherited from healthy father.
** Familial case (4′: mother of proband 4).

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ISSN: 1471-2350

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