Table 2.

Phenotypic overlap between our patient and a patient reported by Avansino et al. [15] and Sarri et al. [22]. Note some of the craniofacial and other physical features also reported in connective tissue disorders, e.g. dolichocephaly, malar hypoplasia/midface hypoplasia, etc. Some of these features were reported in Novara et al. [18] which is not included in this table

	Current Case	Avansino et al., 1999	Sarri et al., 2006
Duplication:	mar(5)(p13.3-q11.2) [40–45% mosaicism]	mar(5)(p10-p13.1)	r(5)(p13.2~ 13.3-q11.2) [60% mosaicism]
Dysmorphic Facial Features:
Macrocephaly	+	+	+
Dolichocephaly	+	+	+
Epicanthal folds	–	+	+
Upslanting palpebral fissures	–	+	Down-slanting
Hypotelorism/ Hypertelorism	Hypo	Hyper	Hyper
Esotropia/strabismus	+	–	–
Short nose	–	+	–
Malar hypoplasia	+	–	–
Midface hypoplasia	–	+	–
Pre-auricular pit	Bilateral	Unilateral	Bilateral
High arched palate	–	+	–
Arachnodactyly/tapered fingers	+	+	+
Other Features:
Polyhydramnios	+	+	–
Pectus excavatum	+	–	–
Respiratory issues	+	+	–
Congenital heart defect	–	+	+
Aortic dilation	+	NR	–
Scoliosis	+	–	–
Talipes equinovarus	+	–	–
Seizures	–	–	–
Hypotonia	–	+	–
Developmental delay	+	+	Borderline

NR not reported