Fig. 1

Family pedigrees, genotypes, growth charts for patients and clinical presentation. a, b Pedigrees of the families studied with CPHD3 demonstrating the recessive inheritance pattern. Filled symbols indicate affected individuals. The respective genotype is indicated below each individual. Symbols are: + for wild type allele;—for mutated allele. c, d, e Representative growth chart for Patients II:2 (Family 1), II:2 (Family 2) and II:4 (Family 2) showing reduced growth velocity for all patients and reduced response for patient 2 and 3 compared to patient 1. Affected patient 2 (II:2 from family 2) showing f neck rotation, g scoliosis and h lower thoracic scoliosis by spine x-ray. i, j Multisequential multiplanar brain MRI reveals pituitary gland hypoplasia for patient II:2 from family 1 i coronal view j sagittal view k skull x-ray demonstrates an increased anterior-posterior diameter of calvarium suggestive of dolicocephaly