Table 1 Characteristics present in our patients that are shown in different craniosynostosis syndromes

From: The limits of clinical findings in similar phenotypes, from Carpenter to ATRX syndrome using a whole exome sequencing approach: a case review

Syndromes
Clinical characteristics	Our patients	Carpenter	Apert	Crouzon	Pfeiffer	Saethre-Chrotzen	ATRX
Premature teething	+	+	+	+			+
Inguinal hernia	+
Hip dysplasia	+
Strabismus	+		+	+
Ptosis	+		+			+
Hypertelorism	+		+	+	+	+	+
Wide nasal bridge	+
Long philtrum	+
Clinodactily	+
Camptodactyly	+
Syndactyly	+	+	+		+	+
Brachydactyly	+	+			+
Valgus feet	+	+
Developmental delay	+	+	+			+	+
Verbal aphasia	+						+
Dolichol colon	+						+
Malar hypoplasia	+
Dorsal kyphosis	+	+
Spina bifida occulta	+
Mitral valve insufficiency	+	+				+
Total (out of 20)	20	7	6	3	3	5	5

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ISSN: 1479-7364

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