14q32.3-qter trisomic segment: a case report and literature review

Table 4 Summary of clinical features from the literature review of 11 cases of distal 14q duplication and present case

	Literature	Present Case
Major Malformation
neural tube defect	1	-
corpus callosum partial agenesis	1	+
heart defect	4	+
diaphragmatic hernia	2	-
umbilical hernia	2	+
Minor Anomalies
prominent/high forehead	7	+
downslanted palpebral fissure	3	-
hypertelorism	6	+
dysplastic/hypoplastic ear helices	6	+
broad and/or flat nasal bridge	3	+
bulbous nasal tip	3	+
high palate	3	+
short philtrum	2	-
broad mouth	5	+
thin upper lip with exaggerated Cupid’s bow	8	+
micrognathia	6	+
digital anomalies	4	-
Medical Complications
hypotonia	6	+
hypothyroidism	2	+
Growth and Development
microcephaly	4	+
small at birth	5	+
developmental delay	9	+

ISSN: 1755-8166