schwaibold_13_ID/DD/ASD_discovery_cases-case1

  Schwaibold EM , et al. 2013

 2 yrs. 10 mos.

 M

 Developmental delay and autistic features

 Birth/neonatal history: intrauterine growth retardation (IUGR); C-section performed in 28th week of gestation due to pathologies in Doppler sonography after otherwise uneventful pregnancy; birth weight 3rd %ile, birth length <3rd %ile, OFC 10th-25th %ile; Apgar scores of 8/9/9; transferred to NICU due to postnatal respiratory insufficiency; OFC fell below 3rd %ile shortly after birth. Developmental milestones: sitting without support at 12 months, started crawling between 12-15 months, unable to walk without support at age of 2 years 10 months. Language and communication evaluation: capable of building double syllables that were not directed to a precise person or thing. Motor and musculoskeletal evaluation: unable to walk without support at age of 2 years 10 months; physiotherapy needed due to too low or too high muscular tone. Behavioral/psychiatric evaluation: demonstration of some autistic features (e.g., stereotypic movements) and anxiety in unfamiliar situations. Other features: severe feeding problems with frequent regurgitation of food; poor appetite and ate only pureed food at age of 2 years; mild renal malformations detected by ultrasound; persisting Ductus arteriosus Botalli, which responded to pharmacotherapy, and small persisting foramen ovale observed in postnatal ECG. Dysmorphic features: distinctively arched & mildly downslanting eyebrows, positional plagiocephalus, low-set and posteriorly rotated ears. Family history: similarly affected male monozygotic twin (schwaibold_13_ID/DD/ASD_discovery_cases-case2); twins were first children of healthy non-consanguineous parents; no family history of congenital anomalies or intellectual disability.

 Developmental delay

 58259067

 64586023

  6326957

 GRCh38

 Deletion

 Yes

  schwaibold_13_ID/DD/ASD_discovery_cases-case2

  Schwaibold EM , et al. 2013

 2 yrs. 10 mos.

 M

 Developmental delay and autistic features

 Birth/neonatal history: developed hydrocephalus internus; intrauterine growth retardation (IUGR); C-section performed in 28th week of gestation due to pathologies in Doppler sonography after otherwise uneventful pregnancy; birth weight 3rd %ile, birth length <3rd %ile, OFC 25th %ile; Apgar scores of 8/9/9; transferred to NICU due to postnatal respiratory insufficiency; post-natal increase in hydrocephalus internus resulted in ventriculoperitoneal shunt. Developmental milestones: delay of about 3 months compared to monozygotic twin brother. Language and communication evaluation: capable of building double syllables that were not directed to a precise person or thing. Motor and musculoskeletal evaluation: physiotherapy needed due to too low or too high muscular tone. Behavioral/psychiatric evaluation: demonstration of some autistic features (e.g., stereotypic movements) and anxiety in unfamiliar situations. Brain imaging: Brain MRI at age of 3 months revealed severe hypoplasia of corpus callosum; subsequent MRI at age of 15 months raised suspicion of periventricular leukomalacia. Other features: severe feeding problems with frequent regurgitation of food; poor appetite and ate only pureed food at age of 2 years; mild renal malformations detected by ultrasound; persisting Ductus arteriosus Botalli, which responded to pharmacotherapy, and small persisting foramen ovale observed in postnatal ECG. Dysmorphic features: distinctively arched & mildly downslanting eyebrows, positional plagiocephalus, low-set and posteriorly rotated ears, thick left thumb with sites for two nails (indicated two distal phalanges, X-ray confirmed double thumb type Wassel II), cowlicks. Family history: similarly affected male monozygotic twin (schwaibold_13_ID/DD/ASD_discovery_cases-case1); twins were first children of healthy non-consanguineous parents; no family history of congenital anomalies or intellectual disability.

 Developmental delay

 58259067

 64586023

  6326957

 GRCh38

 Deletion

 Yes