Table 1 Clinical features in patients with 9p duplication and deletion

Authors

Congenital anomalies

Mosca et al.^a(12 years)

synophyrs, upslanting palpebral fissures, short neck, mental retardation, microcephaly, large ears, hypotonic face, low hairline, Polymicrogyria

Chen et al. (22 wks gestation)

thin lips, narrow forehead with metopic ridging, long, thin eyebrows with mild synophyrs, short neck, ventriculomegaly

Hulick et al. (4 months)

thin upper lip, mild micrognathia, low-set ears, microstomia, hypertelorism, bulbous nose, cleft palate, 5^th digit bilateral clinodactyly, dystrophic nails, absent uvula, deep-set eyes, large palpebral fissures, difficulty feeding, growth delay

Hauge et al. (7 years)

thin upper lip, low-set, posteriorly rotated ears, hypotonia, mild hypertelorism, developmental delay, microcephaly, long palms, 5^thdigit bilateral clinobrachydactyly, peg-shaped teeth, low-set eyebrows, smooth philtrum, mild hearing loss

Current case (5 weeks)

thin lips, cardiac murmur/deficit, long, grooved philtrum, flat nasal bridge, hypotonia, wide-open anterior fontanelle and sagittal suture, microcephaly, bulbous nose, single palmar crease, extra skin at nape

Faas et al. (2 years)

thin lips, long, prominent philtrum, cardiac murmur/deficit, metopic ridge, high, narrow forehead with bitemporal narrowing, retrognathia, narrow, upslanting palpebral fissures, anteverted nostrils, microstomia, short neck, widely space nipples, hypertelorism, narrow palate, low-set ears, long fingers and toes, small nails, clinodactyly of 4^thand 5^thdigits, blue sclerae

Swinkels et al. (10 years)

thin upper lip, long philtrum, cardiac murmur/deficit, trigonocephaly, micrognathia, midface hypoplasia, small palpebral fissures, epicanthic folds, posteriorly rotated, low-set ears, flat nasal bridge, anteverted nostrils, short neck, widely spaced nipples, omphalocele, developmental delay, hypertelorism, highly arched, narrow palate, tapering fingers, scoliosis, flat feet