Clinical Data
Patient I. 10 year-old boy, intra uterine growth retardation (IUGR), short stature, triangular face, long and smooth philtrum, retrognathia, large ears, hypoplastic scrotum, cryptorchidism, crossed renal ectopia, moderate development delay and intellectual deficiency. Patient II. 11 year-old girl, IUGR, short stature, microcephaly, prominent nasal bridge, pointed and long nose, short philtrum, high palate, dysmorphic ears, hypotonia, neuro-psychomotor delay and intellectual deficiency. Patient III. 14 year-old boy, short stature, dolico-trigonocephaly, bilateral epicanthic folds, upslanting palpebral fissures, ocular hypertelorism, left palpebral ptosis, myopia, strabismus, low-set and simplified auricles, broad nasal root, depressed nasal bridge, retrognathism, high-arched palate, long hands, cervical kyphosis, systolic dysfunction with minimal mitral and tricuspid reflux and dilatation of the left ventricle, vesico-uretheral reflux, speech delay and intellectual deficiency, Patient IV. 22 year-old girl, short stature, microcephaly, large nasal bridge, long philtrum, dysmorphic ears, esotropia, dermal hypopigmentation regions, semi-flexed legs, Dandy-Walker variant cist, esotropia and mild optic nerve dysplasia at right, ostepenia, ulna shortening, bent legs, hypotonia, neuro-psycho-motor delay and intellectual deficiency. Patient V. First genetic evaluation on 3 year-old boy, preterm, IUGR, microcephaly, narrow and oblique forehead, upslanting palpebral fissures, ocular hypertelorism, prominent nasal bridge, high palate, prominent incisors, large and dysmorphic ears, peno-scrotal inversion, scrotal hypoplasia, prominent and large halluces, renal ectopia, hypotonia and severe neuro-psychomotor delay. Patient VI. One year-old boy, IUGR, microsomia, microcephaly, micrognathism, bilateral epicanthic folds, long eyelashes, small nose, prominent nasal bridge, long phlitrum, broad helices, low set dysmorphic ears, high palate, thin upper lip, high palate, thoraco-lombar scoliosis, right feet pos-axial polydactyly, hypotonia and neuro-psychomotor development delay. Patient VII. 23 year-old male, downslanting palpebral fissures, prominent nose, broad nasal bridge, thin upper lip, upper anus implantation and decreased subcutaneous tissue in gluteal region, hypotrophy of the of the lower limbs, club feet with scar on internal edges from anterior surgical repair, protrusion of the calcaneus, and mild intellectual deficiency. Patient VIII. 22 year-old female, short stature, microcephaly, brachycephaly, high forehead, exotropia, hipoplastic alae nasi, hiperextensible knees, rough and drought skin of the lower limbs, generalized hirsutism and mild intellectual disability. Patient IX. 7 year-old boy, short stature, microcephaly, brachycephaly, middle face hypoplasia, upper slanting palpebral fissures, ocular hypertelorism, large mouth, downturned angles of mouth, high-arched palate, bifid uvula, peno-scrotal hypospadia, bifid scrotum, bilateral cryptorchidism, bilateral inguinal hernia, vesico-uretheral reflux (grade III), recurrent pulmonary and urinary infections, subclinical hypothyroidism and eczema, hypotonia and moderate neuro-psychomotor development delay. Patient X. 5 year-old girl, short stature, esotropia, bilateral epicanthic folds, downturned angles of mouth, large and posterior rotated ears, clinodactyly of 5th fingers, gastro-esophageal reflux and atrial/tricuspid cardiac defects corrected by surgery. Patient XI. 11 year-old girl, short stature, ocular hypertelorism, thick eyebrows, esotropia, right palpebral ptosis, bulbous nose, one pre auricular appendix and two pre-auricular pit at right, hepatomegaly and splenomegaly, IgA immunodeficiency, chronic hepatitis, renal tubular acidosis, neuro-psychomotor delay and intellectual deficiency. Patient XII. 6 year-old girl, microcephaly, prominent forehead, low set nasal bridge, pectus excavatum, asymmetry the lower limbs, depigmented patches in the upper limbs, minimal ventricular septal defect, mild dysplasia of the tricuspid valve and mild developmental delay. Patient XIII. 24 year-old male, hypotonia, elongated and concave face, prominent nose, large and prominent dysmorphic ears, two café-au-lait spots, chest asymmetry, dorso-lombar scoliosis, C2-C3 vertebral fusion, neuro-psychomotor delay and intellectual deficiency. Patient XIV. Two year-old girl, irregular teeth, large nose, small mouth, a small supernumerary nipple at left, proximal implantation of halluces, hypotonia and mild motor development delay.