Diagnosis of Noonan syndrome and related disorders using target next generation sequencing

BMC Medical Genetics

Table 4 Clinical features of the patients carrying rare PTPN11 mutations

	Case n°8	Case n°9	Case n°10	Case n°16	Father case n°16	Case n°18	Mother case n°18
Sex
Short stature
Macrocephaly	+	-	+	-	-
Hypertelorism
Downslanting palpebral fissures
Palpebral ptosis	-	-	+	-	+	+	+
Epicanthal folds	+	+	-	+	-
Short broad nose	+	+	-	+	-	-
Deeply grooved philtrum	+	+	+	+	+
High wide peaks of the vermilion	+	+	+	+	+	+	+
Micrognathia	-	+	-
Low-set and/or posteriorly angulated ears with thick helices
Low posterior hairline	-	+	+	-	-	+	-
Thorax anomalies	-	+	+	-	-	+	-
Cardiac defect	+	+	-	-	-
- PVS	-	+	+	-	-	-	-
- ASD	-	-	-
- VSD	-	-	-	-	-
- PDA	-	+	-	-	-
Arrhythmia	-	-	-	-	-	WPW	-
Renal anomaly	-	-	-	-	-	-	-
Cryptorchidism	NA	-	-	+	NA
Developmental delay or cognitive deficit
Alopecia	-	-	+	+	-
Pancreatic cyst	+	-	-	-	-
Angioma	-	-	-	-	-
Inheritance	NT	pat	NT	mat	NT

ASD, atrial septal defect; VSD, ventricular septal defect; HCM, hypertrophic cardiomyopathy; mat, maternal; NA, not applicable; NT, not tested; pat, paternal; PDA, patent ductus arteriosus; PVS, pulmonary valve stenosis; WPW, Wolf-Parkinson-White.
+present; -not present.

ISSN: 1471-2350