Table 3 Anthropometrical parameters, mode of delivery and postnatal outcomes in BH4 deficiencies and DNAJC12 deficiency.
From: Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
Disease name | Total number of patients (families) | Gestational age | Birth weight | Birth length | Birth head circumference | sIUGR | Mode of delivery | Postnatal outcome in mature newborn | Postnatal outcome in prematurity | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
n | n | Mean | Prematurity (%) | n | <10% perc (SGA) (%) | n | <10% perc (%) | n | <10% perc (%) | <3% perc (microcephaly) (%) | (%) | n | n | ||||
arGTPCHD | 18 (17) | 17 | 40 | 0 | 15 | 33 | 8 | 25 | 7 | 29 | 0 | 8 | 9 SVD, 8 C-section, 1 NA | 8 | Jitteriness (n = 2), hyperbilirubinemia (n = 2), each once: tremor, irritability, feeding problems, vomiting, temperature instability | NA | |
adGTPCHD | 36 (25) | 33 | 39.4 | 3 (n = 1) 36th GW | 27 | 11 | 15 | 13 | 8 | 0 | 0 | 0 | 29 SVD, 5 C-section, 1 IVD,1 VE | 3 | Hypoglycemia, congenital torticollis, tachypnoea due to a small ventricular septal defect | 1 | None |
PTPSD | 56 (53) | 49 | 38.2 | 10 (n = 5) range: 33rd-36th GW | 45 | 56 | 36 | 33 | 29 | 34 | 24 | 18 | 20 SVD, 24 C-section, 4 IVD, 1 VE, 7 NA | 17 | Hyperbilirubinemia (n = 8), feeding problems (n = 6), hypoglycemia (n = 5), each once: sepsis, hypothermia, floppiness, respiratory distress | 2 | Hypoglycemia, hyperbilirubinemia, feeding problems, temperature instability |
DHPRD | 37 (34) | 36 | 38.7 | 11 (n = 4) range: 31st-36th GW | 29 | 24 | 16 | 6 | 15 | 27 | 7 | 4 | 21 SVD, 11 C-section, 4 IVD, 1 NA | 12 | Hyperbilirubinemia (n = 6), feeding problems (n = 6), hypoglycemia (n = 2), each once: sepsis, hypoxic ischemic encephalopathy, oculogyric crisis, hypertonia, meconium aspiration, dysplastic left kidney | 3 | Neonatal distress, tachycardia, ascites |
SRD | 14 (11) | 14 | 38.6 | 21 (n = 3) range: 33rd-36th GW | 10 | 30 | 7 | 29 | 5 | 40 | 0 | 11 | 8 SVD, 3 C-section,3 IVD | 4 | Hyperbilirubinemia (n = 2), feeding problems, perinatal hypoxia | 3 | Hyperbilirubinemia, feeding problems, need for mechanical ventilation |
DNAJC12D | 5 (4) | 5 | 37.8 | 20 (n = 1) 36th GW | 5 | 0 | 5 | 20 | 5 | 0 | 0 | 0 | 3 SVD, 2 C-section | 2 | Hyperbilirubinemia | 1 | None |
