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

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

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  
  1. ND: not determined.