Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual

Wierzba, Jolanta; Gil-Rodríguez, María Concepción; Polucha, Anna; Puisac, Beatriz; Arnedo, María; Teresa-Rodrigo, María Esperanza; Winnicka, Dorota; Hegardt, Fausto G; Ramos, Feliciano J; Limon, Janusz; Pié, Juan

doi:10.1186/1471-2350-13-43

BMC Medical Genetics

Table 1 Clinical data for patients with typical features of CdLS and TS

From: Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual

Clinical findings		CdLS and 45,X/46,XX mosaicism[14]		CdLS ( NIPBL mutation) and 45,X/46,XX mosaicism [this paper]		CdLS ( SMC1A mutation) and 45,X/46,XX mosaicism[15]
		TS	CdLS	TS	CdLS	TS	CdLS
*Birth parameters and growth*
Birth weight < 10^th centile		-	+	-	+	-	-
Length at birth < 10^th centile		-	+	-	+	N/A	N/A
Growth: Short stature		+	+	+	+	+	+
*Craniofacial features*
Eye	Synophrys	-	+	-	+	-	+
	Arched eyebrows	-	+	-	+	-	+
	Long eyelashes	-	+	-	+	-	-
Nose	Depressed nasal bridge	-	+	-	+	-	-
	Anteverted nares	-	+	-	+	-	-
Philtrum	Long	-	+	-	+	-	+
	Prominent	-	+	-	+	-	-
	Smooth	-	+	-	+	-	+
Mouth	Thin upper lip	-	+	-	+	-	+
	Down-slanting corners	-	+	-	+	-	-
	Widely-spaced teeth	-	+	-	-	-	+
	Micrognathia	+	+	+	+	+	+
Ear	Low-set	+	+	+	+	-	-
	Posteriorly rotated	-	+	-	+	-	-
Neck	Low posterior hairline	+	+	+	+	-	-
	Short neck	+	+	+	+	+	+
	Webbed neck	+	-	+	-	-	-
Skull	Microbrachycephaly	-	+	-	+	-	+
	Bitemporal narrowing distance	-	+	-	+	-	+
	Skull asymmetry with right-sided flattening	-	-	-	-	-	+
*Neurology and cognitive profile*
Neurological involvement: Hypertonia		-	+	-	+	N/A	N/A
Cognitive: Mental retardation		N/A	N/A	-	+	-	+
Verbal and motor developmental delay
Speech delay		+	+	+	+	+	+
Language delay		-	+	-	+	-	+
Developmental delay		-	+	-	+	-	+
*Musculoskeletal system*
Small hands and/or feet		-	+	-	+	-	+
5^th finger clinodactyly		-	+	-	+	N/A	N/A
Syndactyly 3^rd-4^th fingers		-	-	-	-	-	+
Proximally placed thumb		-	+	-	+	-	+
Single palmar crease		-	-	-	+	N/A	N/A
Wide Space 1^st 2^nd toes		-	-	-	-	-	+
Bilateral cubitus valgus		-	-	+	-	N/A	N/A
Limited elbow extension		-	+	-	+	N/A	N/A
Hip dislocation		-	-	+	+	N/A	N/A
Short sternum		-	-	+	-	N/A	N/A
Scoliosis		-	-	-	-	+	+
Bone age retardation		-	-	+	-	N/A	N/A
Broad chest with widely-spaced nipples		+	-	+	-	+	-
*Ophthalmologic findings*
Glaucoma		-	-	+	+	N/A	N/A
Retinopathy		N/A	N/A	-	+	N/A	N/A
Myopia		N/A	N/A	+	+	N/A	N/A
*ENT manifestations*
Sensorineural hearing loss		N/A	N/A	+	+	N/A	N/A
*Skin and nails*
Lymphedema of the feet		-	-	+	-	-	-
Hirsutism		-	+	-	+	-	-
Cutis marmorata		-	-	-	+	N/A	N/A
Small and hypoplastic nails		+	-	+	-	-	-
Hyperconvexed nails		-	-	-	-	+	-
*Cardiac system*
ASD, VSD and PS		-	-	-	+	-	-
Tetralogy of Fallot		-	-	-	-	-	+
*Gastrointestinal system*
GERD		+	+	+	+	+	+
Gastrointestinal malrotation		-	-	-	-	-	+
Constipation		-	-	-	+	-	+
Feeding problems		-	-	+	+	+	+
Poor sucking and swallowing reflexes		+	-	+	-	N/A	N/A

(+) Present; (−) Not present; N/A: Not available; OFC: Occipito-Frontal Circumference; ENT: Ear-Nose-Throat; ASV: Atrial Septal Defect; VSD: Ventricular Septal Defect; PS: Pulmonary Stenosis; GERD: Gastroesophageal Reflux Disease.

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