{196} 2 cases

{0} 1 case provided by Dr. H. Nelle, Jena, Germany
no UPD 15. mar of maternal origin

{220}

{295}

{0} 1 case provided by Dr. Petersen, Athens, Greece

behavioural problems at age 29 months. at 36 months, stereotypical play and using fewer than 6 words. At 48 months he met ADI/ADOS criteria for autistic disorder. Overall IQ (Stanford Binet) was 92, with relative strength in abstract/visual and quantitative reasoning, and weakness in verbal reasoning. The child is somewhat obese and has cupped pinna but is not otherwise noted to be dysmorphic.

Mental retardation; autism; hypotonia; speech problems; Mother at 27 years: Low IQ; Learning disabilities

{187} 5 cases

{44} 4 cases

{135}

{189} 7 cases

{190}

{63} cases 1, 3, 4, 5, 6, 7, 8

{191} cases 3 and 7

{188} case 1449

{192}

{193} 2 cases

{194}

{195}

{196} 3 cases

{119}

{1} case 22, {2}

{14}  case 2

{123} case C, E

{151}

{113} 

{305} 

 see below 

result of an in vitro fertilization procedure; intrauterine growth retardation was detected by ultrasound; and fetal movements in the low range. Birth was induced at 35 weeks because of fetal distress. Apgar score 1 at 1 min and 8 at 5 min; birth weight 1.290 kg; generalized hypotonia  both testes were palpated in the inguinal region and were surgically reduced, the penis was small. At that time he weighed 2.490 kg and the mother complained of feeding difficulties. walking at 3 years; first words at  3.5 years, excessive eating started at  3 years, his weight at 3.5 years was 18 kg (>97%) and his height was 93 cm (50%). facial appearance was typical for Prader-Will syndrome (PWS); 

multiple congenital abnormalities after birth; abnormal ultrasound findings during pregnancy

increased postnatal growth, obesity, long fingers, facial dysmorphism; at birth in 42 week of gestation: 2550g, 53cm; weight, length and OFC <3rd centile; at 1 y: 76cm (>25centile), 9350g (>25centile), at 6y 125cm (>90centile), 29kg (>95centile); mentally normal at 21y

advanced maternal age, normal child born

uneventful pregnancy and birth; weight: 3370g, length 51cm; peculiar appearance with antimongoloid slant of palpebral fissures, epicanthic folds, low-set ears, bulbous nose, broad nasal root, retrognathia, high arched palate, long philtrum, down-turned corners of the mouth, arachnodactyly of fingers and toes, joint contractures of hips; asymmetric thorax and head, thoraco-lumbar kyphosis; delayed psychomotor development + mental retardation; at 2y 98cm height (98. percentile), bilateral sensor neural hearing loss.

Normal pregnancy and birth. At birth weight 2920g, length 49cm; craniofacial dysmorphism including cataract. Moreover hemangiomas on right forearm, abnormal feet (clasp like). At 6 months developmental delay, muscular hypotonia, spastic legs. At 3 years focal seizures (right). At 11y mental retardation, idiopathic thoracolumbal scoliosis, hip dysplasia, mitral valve prolapsed, weight: 29kg, length 152cm. Low weight in connection with feeding problems.

Amniocentesis due to abnormal ultrasound findings with nuchal edema, complex heart defect, bilateral hydronephrosis; pregnancy terminated in  week 24; acc. to autopsy mild intrauterine growth retardation, polycystic left kidney, dysplastic right kidney

uneventful pregnancy and birth; weight: 4510g, length 55cm; low-set dysplastic ears, micrognathia, high arched palate, antimongoloid slant of palpebral fissures, epicanthic folds, bulbous nose, long philtrum, down-turned corners of the mouth, ulnar-derivate hands, arachnodactyly of fingers and toes; asymmetric thorax and head, scoliosis, joint contractures of hips; bilateral inguinal hernia, moderate hydrocephalus, bilateral sensor neural hearing loss, delayed psychomotor development + mental retardation; postnatal growth >95. percentile 

 multiple congenital malformations

child born at term, normal weight and length; flattened nasal tip; abnormal ears, facial asymmetry, thin upper lip, long philtrum, labia majora hypoplastic, incomplete hip abduction, hypotonic, aortic arch hypoplasia, severe coarctation of aorta, moderate VSD, Dandy-Walker variant in brain; severe hearing loss, child died at 12d. 

child born at week 29  due to spontaneous rupture of membranes; bilateral hydronephrosis in ultrasound; weight 1530g (50.-90. centile), length 44cm (>90. centile), OFC 26.5cm (10.-50. centile); APGAR 3/6/10; no spontaneous respiration; turricephaly with metopic ridge; blepharophimosis, high and broad nasal bridge, small mouth, micrognathia, bilateral cup-shaped ears, long fingers and toes, overlapping toes 2over 1 and 4 over5; atrial-septal defect, open ductus arteriousus hydronephrosis of right kidney; child died at 1m

child born with normal weight but length >97. centile, ptosis, epicanthal folds, elbow contractures, four-vessel cord, unusual hands and feet; hypoplastic labia majora; no immediate problems at newborn period; At 95. centile length <95. centile, weight at 10. centile, OFC ~90. centile; developmental delay; At 10y height >97. centile, weight at 75. centile, OFC ~90. centile; myopathic facial expression; upslanting eyebrows, bilateral ptosis, down slanting palpebral fissures; abnormal ears; high arched palate, micrognathia, hypomelanosis of Ito; moderate to severe mental retardation.

see below

Born by caesarean section at 37 weeks of pregnancy; pregnancy was complicated by mild bleeding that resolved spontaneously in the first trimester. Presentation was breech. At birth, APGAR 7 and 9, at 1 and 5 min, respectively. weight and length were 3275 g (50th percentile) and 51 cm (50th75th percentile), respectively; his OFC was 33.56 cm (25th percentile). Dysmorphic: cranium was asymmetric, with overlapping of the frontal bone over the parietals, a prominent metopic suture, and a very small anterior fontanel; long face with a prominent, bulbous nose, and microretrognatia. Finger and toes were long. Both hands with finger contractures of second through fourth fingers and extension of the fifth finger, in a position reminiscent of trisomy 18; hypotonic and initially sucked poorly. At 3 months, generally in good health, showed mild developmental delay, and altered muscular tone (hypertonia of lower limbs and hypotonia of upper limbs). weight 6990 g (85th percentile), length 66.5 cm (>95th percentile), and OFC 41.5 cm (55th percentile); strabismus and a left epicanthic fold;  ears small and low-set, nasal bridge wide, nipples hypoplastic, and a hydrocele was noted;  sacral pilonidal sinus and hypoplastic toenails; audiogram → bilateral sensor neural hearing loss. At 7 months, weight (9360 g) and length (76 cm) are at 85th and 97th percentile, respectively, OFC 45.6cm (75th percentile). He is alert and responsive but did not roll over.

see below

Birth: at term; weight 3200 g; length 47 cm. At the age of 18:weight 55 kg, height 152 cm, lower limb asymmetry, bilateral palpebral ptosis, hyperlaxity of connective tissue, speech delay, mild mental retardation. 

birth weight , length and weight >75., >95. and >95. centile; macrodolichocephaly, hypotonic, fingers with camptodactyly, strabismus, overgrowth with weight and length >95. centile; facial scoliosis, developmental delay, Wilms tumor at 4y; 

Amniocentesis due to advanced  maternal age; TOP at week 22; autopsy showed dysmorphic features of asymmetry of the head, broad nasal bridge, bulbous nose, low set ears, long philtrum, micrognathia, slender fingers and toes, overlapping toes; horseshoe kidney, pulmonary hypoplasia

Ultrasound normal in week 18; amniocentesis due to advanced maternal age; born after spontaneous labor at 29 weeks gestation. Birth weight 1940g (60th centile), length 44cm (50th centile), head circumference 31.2cm (above 60th centile); dysmorphic features: short palpebral fissures, broad and flat nasal bridge; telecanthus, high forehead, micrognathia ears low-set and posteriorly rotated with over folded helices, long and thin feet, fifth-finger nail hypoplasia, clinodactyly, scrotum under-developed and testes were undescended bilaterally; chest X-ray →only eleven ribs, bilateral corneal dystrophy; on day three of life, renal failure. Death on day five.

15-N-
IMB-
q22/
mult

see {268}

{268}

15-N-
IMB-
q24/
1-1

n.a./
n.a.

n.a.

n.a.

46,trp(15)(q24q26)

n.a.

congenital anomalies

{247}

Born at 37 weeks gestation with loop of umbilical cord and APGAR scores 4, 7, and 10 at 1, 5, and 10 min. Birth weight 2,810 g (10th-5th centile), length 51 cm (50th-90th centile). Facial dysmorphism and left body hemihypertroph; psychomotor development delayed. Cerebral tomography at 1 year old: ventricular dilatation and septum lucidum cyst. At 6 years: he underwent treatment for left Wilm’s tumor (stage II) including left nephrectomy, chemotherapy, and irradiation. He had two fractures of the left femur at 17 years old. At 23 years: weight 43 kg, height 162 cm (underestimated because of a severe scoliosis), head circumference 56 cm. Face and body were asymmetrical, with left hemi-hypertrophy. Dysmorphic features: up-slanting palpebral fissures, strabismus, long pyramidal nose, short philtrum, retrognathism and low-set, small and squared right ear with a thick helix. Fingers thin and long, toes stocky with bilateral hallux valgus. Other features: severe scoliosis, asymmetry of lower limbs, numerous naevi, developmental delay with sociable behavior and hearing loss.

Delivery with caesarean section because of dystocia and reduction of cardiac rate for a few minutes. Birth after 39 weeks of gestation, weight 2.750 g (10th centile), length 50 cm (>25th centile), OFC 32 cm (<3rd centile). APGAR 7 and 10. At birth congenital bilateral strabismus. Developmental delay; did not walk until 18-20 months, no speech at ~5y. At 4y 8m severe language delay and behavioral problems (hyperactivity, motor stereotypes, social isolation); no relevant dysmorphic features except prominence of metopic sutures and he seemed older than his chronological age and bone age equivalent to that of a 7-year-old boy. Occipitofrontal circumference 52 cm (50-75th centile), weight 22.300 g, height 118 cm (at and above the 97th centile). He was clumsy with deficits noted in fine motor coordination. He was toilet trained. In routine blood analysis slight anemia with microcytosis. Brain MRI scan 0.5 T images showed a supratentorial widening of the ventricular system and a slight asymmetry, with irregular outline of lateral ventricles. A minor brain malformation, i.e., a thin corpus callosum and hypotrophic shortened hippocampi with slight asymmetry of the cerebellar tonsils, the right one slightly overhanging the foramen magnum, was seen. He met the criteria for classic autism in all the three main domains which are usually considered, i.e., communication, reciprocal social interactions and behavior. At 4 years and 9 months he experienced his first seizure, characterized by localized motor phenomena (left arm myoclonic jerks and deviation of gaze and head to the right) followed by generalized tonic clonic activity.