Clinical features: total: n=26 patients (n=22 Szakszon K et al., n=4 Stevens SJ et al., 2016, n= 1 Miao C et al.)
Ante/perinatal period
Hydrops/edema/polyhydramios 3/23 13%
Intrauterine growth restriction (weight <10 pc) 7/24 29%
Respiratory distress 14/26 54%
Postnatal growth
Microcephaly (pre- or postnatal) (<3 pc) 12/25 48%
Postnatal short stature (<3 pc) 16/26 61.5%
Feeding problems/failure to thrive 15/25 60%
Recurrent or severe infections 11/24 45.8%
Skeletal anomalies 7/22 31.8%
Limb anomalies 18/25 72%
Neurology
Hypotonia 11/22 50%
Brain MRI abnormality (other than corpus callosum) 8/20 40%
Corpus callosum hypoplasia 7/19 36.8%
Seizures/abnormal EEG 7/26 26.9%
Motor developmental delay 22/25 88%
Intellectual disability 23/25 92%
Speech problems esp. apraxia 21/25 84%
Behavioural/ Psychiatric problems (ADHD, anxiety, maladaption) 21/25 84%
Sensory organs
Ophthalmological problems (myopia, hypermetropia, astigmatism) 15/23 65.2%
Hearing impairment 4/22 18.2%
Abnormal sensation (pain/heat/smell/touch) 5/15 33.3%
Morphology
Narrow palpebral fissures 11/25 44%
Fullness of the middle/lateral part of the upper eyelid ("hooded" eyelid) 6/25 24%
Flat malar region 6/25 24%
Broad/square chin 13/25 52%
Broad nasal base 21/25 87.5%
Protruding tongue/open mouth appearance 6/25 24%
Dental anomalies (cone-shaped teeth, delayed dentition, crowding) 15/24 62.5%
Anomalies of the ears (not specific) 16/25 64%
Thin/sparse hair 8/25 32%
Haematological abnormality (cytopenias) 5/16 31.3%
Puberty precox 2/5
Ante/perinatal period
Hydrops/edema/polyhydramios 3/23 13%
Intrauterine growth restriction (weight <10 pc) 7/24 29%
Respiratory distress 14/26 54%
Postnatal growth
Microcephaly (pre- or postnatal) (<3 pc) 12/25 48%
Postnatal short stature (<3 pc) 16/26 61.5%
Feeding problems/failure to thrive 15/25 60%
Recurrent or severe infections 11/24 45.8%
Skeletal anomalies 7/22 31.8%
Limb anomalies 18/25 72%
Neurology
Hypotonia 11/22 50%
Brain MRI abnormality (other than corpus callosum) 8/20 40%
Corpus callosum hypoplasia 7/19 36.8%
Seizures/abnormal EEG 7/26 26.9%
Motor developmental delay 22/25 88%
Intellectual disability 23/25 92%
Speech problems esp. apraxia 21/25 84%
Behavioural/ Psychiatric problems (ADHD, anxiety, maladaption) 21/25 84%
Sensory organs
Ophthalmological problems (myopia, hypermetropia, astigmatism) 15/23 65.2%
Hearing impairment 4/22 18.2%
Abnormal sensation (pain/heat/smell/touch) 5/15 33.3%
Morphology
Narrow palpebral fissures 11/25 44%
Fullness of the middle/lateral part of the upper eyelid ("hooded" eyelid) 6/25 24%
Flat malar region 6/25 24%
Broad/square chin 13/25 52%
Broad nasal base 21/25 87.5%
Protruding tongue/open mouth appearance 6/25 24%
Dental anomalies (cone-shaped teeth, delayed dentition, crowding) 15/24 62.5%
Anomalies of the ears (not specific) 16/25 64%
Thin/sparse hair 8/25 32%
Haematological abnormality (cytopenias) 5/16 31.3%
Puberty precox 2/5