Long-term auxological and endocrinological evaluation of patients with 9p trisomy: a focus on the growth hormone-insulin-like growth factor-I axis

Table 2 Comparison of our patients’ phenotypes with those reported in the literature

Phenotype	Literature (%)	Case 1	Case 2	Case 3	Case 4
Downturned oral commissures	95%	+	+	+	+
Bulbous nose	95%	+	+	+	+
Malformed/low-set ears	70-80%	+	+	+	+
Strabismus	70-80%			+	-
Short philtrum	70-80%	+	+	+	+
Hypertelorism	70-80%	+	+	+	-
Microcephaly	70-75%	-	-	+	-
Brachycephaly	70-75%	+	+	+	-
Cleft lip/palate	5%	-	-	-	-
Enophthalmos	60-70%	+	-	-	-
Ogival palate	60-70%	ND	+	+	-
Down-slanting palpebral fissures	60-70%	+	+	+	+
Growth retardation	99%	+	+	+	+
Delayed skeletal maturation	99%	+	+	+	+
Delayed puberty	70-90%	-	+	+	ND
Low birthweight	50-70%	+	+	-	-
Clinodactyly	90%	+	+	+	+
Brachydactyly	90%	+	+	+	-
Nail hypoplasia	70-75%	+	-	+	+
Lordosis	60%	+	+	-	-
Kyphoscoliosis	60%	+	+	+	-
Short neck	60-70%	+	-	+	-
Single palmar crease	80-95%	+	+	+	-
Single crease of the fifth finger	30-50%	+	+	+	-
Mental retardation	60%	+	+	+	+
Language delay	90%	+	+	+	+
Hypotonia	60-70%	+	+	+	-
Agenesis/hypoplasia of the corpus callosum	< 30%	agenesis	hypogenesis	agenesis	ND
Epilepsy	< 30%	-	+	-	-
Ventriculomegaly	< 30%	+	-	-	-
Cerebral hypoplasia	< 30%	-	-	-	-
Cardiac anomalies	20%	-		-	-
Umbilical hernia	rare	-		-	-
Other signs	-		spondylolisthesis	urogenital anomalies

ISSN: 1472-6823