Abstract. LIM homeodomain transcription factors regulate many aspects of development in multicellular organisms. LHX4/Lhx4 is a protein that is essential for pituitary development and motor neuron specification in mammals. In human, a heterozygous splicing mutation of the LHX4 gene was reported in a family with combined pituitary hormone deficiencies (CPHD). In addition to CPHD, these patients were characterized by small sella turcica and chiari malformation. Here we report a Japanese patient with CPHD (GH, PRL, TSH, LH, FSH, and ACTH deficiency) due to a novel missense mutation (P366T) of the LHX 4 gene. She showed severe respiratory disease and hypoglycemia soon after birth. Brain MRI demonstrated hypoplastic anterior pituitary, ectopic posterior lobe, a poorly developed sella turcica, and chiari malformation. Sequence analysis of the LHX 4 gene identified a heterozygous missense mutation (P366T) in exon 6, which was present in LIM4 specific domain. Neither of the patient's parents harbored this mutation, indicating de novo mutation.

We evaluated the validity of the Ballard scoring system for assessing gestational age in Japanese low birthweight infants. Infants included in this study were 116 neonates who were admitted to seven hospitals in Hokkaido. Gestational ages of all infants were prenatally established by ultrasonographic measurement of the crown‐rump length performed between 8 and 12 weeks of gestation (clinical age). Of these, 74 infants were appropriate for gestational age (AGA) and the remaining were small for gestational age (SGA). Mean birthweight was 1703 g and 34% (39/116) were <1500 g. The correlation coefficient for the total population was 0.93 (P < 0.001). Although mean Ballard age tended to overestimate clinical age, mean differences between Ballard age and clinical age did not exceed 0.6 weeks. Agreement within 2 weeks among all infants was 86.2%. Percentages of agreement within 2 weeks did not differ to a statistically significant degree between AGA and SGA. These results indicate that the Ballard method is of value in assessing gestational age in Japanese low birthweight infants.