Table 1.

Pre- and post-natal clinical findings in two subjects with THNP associated with TRPV6 gene mutations

	Maternal/paternal age (years)	Prenatal ultrasound findings	GA at delivery (weeks)	Birth wt/lg/OFC (percentile)	Ionized calcium mmol/L (1.1–1.3)	Phosphorus mmol/L (1.6–2.6)	PTH pmol/L (1–6.9)	25OH vitamin D nmol/L (75–200)	Maternal 25OH vitamin D nmol/L (75–200)	Thorax hypoplasia and Respiratory dysfunction	Age at complete resolution of skeletal abnormality
Subject 1 (male)	39/44	Short, bell-shaped chest; short ribs, polyhydramnios	36	< 3rd/< 3rd/97th, > 95th	1.01	1.90	145.4	30.0	22.5	Yes	Still abnormal but substantial improvement
Subject 2 (male)	29/30	No abnormalities detected	38	< 3rd/40–50rd/92nd, > 90th	0.92	2.00	9.7	34.9	108.8 (1.4 mo)	Yes	1.8 years

Wt, weight; GA, gestational age; Wks, Weeks; OFC, head circumference; lg, length