| SRS-compatible | SRS-like | |||
---|---|---|---|---|---|
Patient | Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 |
Genetic cause | 4p16.3 deletion | Mosaic trisomy 18 | 19q13.11-12 deletion | 7q11.23 deletion | |
Karyotype | 46,XX | 46,XX | 46,XY | NE | |
Sex | Female | Male | Female | Male | Female |
Present age (years) | 9 | 1 9/12 | 4 | 19 | 7 |
Gestational age (weeks:days) | 34:1 | 40:4 | 34:3 | 40:0 | 40:5 |
Birth length in cm (SDS)a | 38 (−2.37) | 41 (−4.60) | 37.5 (−2.62) | 45 (−2.36) | 45 (−2.61) |
Birth weight in g (SDS)a | 1246 (−3.13) | 1700 (−4.80) | 1156 (−3.67) | 2734 (−1.45) | 2276 (−2.91) |
Birth OFC in cm (SDS)a | 27.0 (–2.17) | 31.0 (−1.96) | 24.0 (−3.79) | 32.5 (−0.69) | 32.4 (−0.92) |
Height at 24 months in cm (SDS)b, c | 70 (−4.87) | ・・・ | 74.8 (−3.63) | 85.2 (−3.06) | 72.3 (−3.66) |
BMI at 24 months (SDS)b, c | −3.34 | ・・・ | −4.18 | +0.27 | +1.00 |
Present height in cm (SDS)b | 104.5 (−3.82) at 8 years | 73.3 (−3.38) | 86.1 (−3.28) at 3 10/12 years | 156.4 (−2.38) at 16 years | 106.0 (−2.64) |
Present weight in kg (SDS)b | 11.6 (−7.86) at 8 years | 8.77 (−2.28) | 8.9 (−5.06) at 3 years | 50.8 (−1.25) at 16 years | 20.3 (−0.58) |
Present OFC in cm (SDS)b | 46.1 (−4.29) at 8 years | 47.8 (+0.20) at 1 7/12 years | 42.5 (−3.96) at 2 years | Unknown | Unknown |
GH treatment | − | − | 3 1/12 years~ | 5 ~ 16 years | − |
SGAd | + | + | + | + | + |
Postnatal growth failurec, e | + | ・・・ | + | + | + |
Relative macrocephaly at birthf | − | + | − | + | + |
Protruding forehead | + | + | + | − | − |
Body asymmetry | − | + | − | − | − |
Feeding difficulties and/or low BMI | + | + | + | − | − |
NH-CSS | 4/6 | 5/5 | 4/6 | 3/6 | 3/6 |
Triangular face | + | + | + | + | + |
Fifth finger clinodactyly | − | − | − | − | + |
Fifth finger brachydactyly | − | − | + | + | + |
Present characteristic features of genetic syndrome caused by PCNV | Pre- and postnatal growth failure, Protruding forehead, Tube feeding, Greek warrior helmet appearance, Severe global developmental delay, Atrial septal defect, Epilepsy, Hearing loss | Prenatal growth failure, Tube feeding, Ventricular septal defect | Pre- and postnatal growth failure, Slender habitus, Long face, Cutis aplasia (posterior occiput), Moderate global developmental delay | Pre- and postnatal growth failure, Long philtrum, Medial eyebrow flare, Moderate global developmental delay | Pre- and postnatal growth failure, Prominent lips with open mouth, Hearing loss, Fifth finger clinodactyly, Moderate global developmental delay |
Absent characteristic features of genetic syndrome caused by PCNV | Distinct mouth, Short philtrum | Overlapping fingers, Rocker bottom feet, Apnea, Single umbilical artery, Prominent occiput, Microcephaly, Inguinal hernia Umbilical hernia, Cleft lip, Cleft palate | Microcephaly | Prominent lips with open mouth, Hearing loss, Fifth finger clinodactyly, Cardiovascular anomalies, Hypercalcemia, Periorbital fullness, Joint hypermobility, Soft lax skin | Long philtrum, Medial eyebrow flare, Cardiovascular anomalies, Hypercalcemia, Periorbital fullness, Joint hypermobility, Soft lax skin |
Congenital heart disease | Atrial septal defect | Ventricular septal defect | − | − | − |
Development | Â | Â | Â | Â | Â |
Motor developmental delay | + | − | + | + | + |
Age at head control (months) | Unknown | 4 | 7 | Unknown | 3 |
Age at sitting without support (months) | − | 6 | 9 | Unknown | 10 |
Age at walking without support (months) | − | 14 | 26 | Unknown | 24 |
Speech delay | + | + | + | + | + |
IQ/DQ (age at examination) | 10 (9Â years) | 78 (1 9/12 years) | 50 (2 10/12 years) | 50 (8Â years) | 50 (5Â years) |
Other findings | Severe neonatal asphyxia, Periventricular leukomalacia | − | − | − | − |