Cutis Aplasia as a clinical hallmark for the syndrome associated with 19q13.11 deletion: the possible role for UBA2 gene

Melo, Joana B; Estevinho, Alexandra; Saraiva, Jorge; Ramos, Lina; Carreira, Isabel M

doi:10.1186/s13039-015-0123-x

Molecular Cytogenetics

Table 1 Clinical features present in patients with 19q13.11 deletion

From: Cutis Aplasia as a clinical hallmark for the syndrome associated with 19q13.11 deletion: the possible role for UBA2 gene

	*Kulharya et al.*	*Malan et al.*			*Schuurs- Hoeijmakers et al.*	*Gana et al.*		*Forzano et al.*	*Present report*	*N/T*
	*Kulharya et al.*	Patient 1	Patient 2	Patient 3	*Schuurs- Hoeijmakers et al.*	Patient 1	Patient 2	*Forzano et al.*	*Present report*	*N/T*
Approximated size of the deletion	11 Mb	6,2 Mb	4,3 Mb	3 Mb	2,4 Mb	1,7 Mb	2,6 Mb	1,4 Mb	4,9 Mb
Gender	Female	Male	Male	Male	Male	Male	Female	Female	Female
Weight at birth	1,295 Kg	1,560 Kg	1,930 Kg		1,620 Kg	1,590 Kg	1,900 Kg	1,580 Kg	1,950 Kg
Developmental characteristics
Intrauterine growth retardation	+	+	+	+	+	+	+	+	+	9/9
Postnatal growth retardation	+	+	+	+	+	+	+	+	+	9/9
DD/ID	+	+	+	+	+	+	+	+	+	9/9
Speech disturbance	+	+	+	+	+	+	+	+	+	9/9
Feeding problems	+	+	+	+	+	+		+	+	8/9
Slender habitus	+	+	+	+	+	+	+	+	+	9/9
Microcephaly	+	+	+	+	+	+	+	+	+	9/9
Failure to thrive	+	-	+	-	+	+	+	-	+	6/9
Facial anomalies
Long face	-	+	+	-	-	-	-	+	+	4/9
High forehead	-	+	+	-	-	-	-	-	+	3/9
Micrognathia/Retrognathia	+	+	+	-	+	+	+	+	+	8/9
Low set ears	+	-	+	-	+	-	-	+	+	4/9
V shaped nasal tip	-	+	+	-	-	-	-	-	-	2/9
Thin lips	-	+	+	+	+	+	+	-	+	8/9
Ectodermal dysplasia
Hair/eyebrows/eyelashes anomalies	-	+	+	+	+	+	+	+	+	8/9
Thin/dry skin	-	+	+	-	-	-	-	+	+	4/9
Cutis aplasia in midline scalp	+	+	+	+	+	+	-	+	+	8/9
Dysplastic nails	-	+	+	-	+	-	-	+	+	5/9
Cutaneous syndactyly	-	-	+	+	+	+	-	-	-	4/9
Extremity abnormalities
Clinodactyly	+	+	+	+	+	+	-	+	+	8/9
Overlapping of the toes	+	+	-	-	-	-	-	+	+	4/9
Long fingers	-	+	+	-	+	+	+	-	+	6/9
Genital abnormalities
Hypospadias	Not applicable	+	+	+	+	+	Not applicable	Not applicable	Not applicable	5/5
Organ abnormalities
Congenital heart disease	+	-	+	-	-	+	-	+	+	5/9
Livedo and cutaneous hypersensibility	-	+	-	-	-	-	-	-	+	2/9
Little subcutaneous fat	+	-	+	-	-	-	-	-	+
Hypotonia	+	-	-	-	-	-	+	-	+	3/9
Dystonia	-	-	-	-	-	+	-	-	+	2/9
Airways infections	+	-	-	+	+	-	-	-	-	3/9

(+) – feature present, (−) – absent feature, DD – development delay, ID – intellectual delay, N/T – number of patients/total of patients.

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ISSN: 1755-8166

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