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Table 1 Clinical description of patients studied (patient data as provided by the clinician at the reference centre)

From: What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis

PATIENT Age at consultation Age of genetic diagnosis Sex Elevated PTH Ca/P Vitamin 25(OH)D BD MR Height (cm) BMI Facial dimorphisms Skeletal dysplasia Advanced bone age Dental defects Other features
PHP01 (P9 [30]) 7y 12y6m M Yes (and TSH) N ND Severe and generalized Behavioural disorder −1,5SD + 1,3SD broad face with widely spaced eyes maxillonasal hypoplasia, severe hypoplasia of the skull, thickened calvarium, increased size of the jaw with severe malocclusion No ND
PHP02 (P8 [30]) 6y6m 8y6m F Yes P↑ ND Severe and generalized No -2.5SD 0.2SD broad face with widely spaced eyes,maxillonasal hypoplasia severe hypoplasia of the skull, thickened calvarium No Yes pigmented skin spots
PHP03 (P14 [30]) 3y 3y10m F Yes (and TSH) N N Severe and generalized No -1.8SD 0.9SD broad face with widely spaced eyes maxillonasal hypoplasia, severe hypoplasia of the skull, thickened calvarium, dysplasia of both hips yes ND
PHP04 13y 18y F Yes N ND Severe and generalized (no X-ray) No 135 cm (-3SD) ND Flat round face genu valgum, Madelung deformity, exostosis in the knee (9y) ND ND osteoporosis
PHP05 3y9m F Yes (and TSH) ND Low levels Severe and generalized ND 45 cm (−2.7 SD) + 1.8 SD broad nasal root Yes (5-6y) ND short neck, café-au-lait spots
PHP06 [31] 42y 45y F No (after Vit. D treatment) (and FSH N Low levels at first Severe and generalized severe 139 cm (− 4 SD) >2SD broad face with flattening of nasal ridge, facial dysostosis, spaced eyes maxillonasal hypoplasia ND short neck, hyperinsulinism
PHP07 (P1 [33]) 31y 40y F Yes (and low GH) N N MT: III-V outcarving cones of MP & TP learning difficulties (no test) 141.5 cm (−4 SD) 42.7 kg/m2 (> > 2SD) round face, thin upper lip and prominent lower lip, pear-shaped nose stubby fingers and toes tooth hypoplasia sparse hair, polyarthrosis, arthralgias of both hips and knees
PHP08 (P2 [33]) 11y F N N N MT: II-V outcarving cones of MP & BP N 139.8 cm (-1SD) 25.6 kg/m2 (+ 1.96 SD) long flat philtrum, and thin upper lip, pear-shaped nose, protruding ears ND ND sparse hair, laterally sparse eyebrows, type 2 diabetes
PHP09 32y F No N ND Generalized shortening, severe outcarving of the epiphyses ND 152 cm (-2SD) ND thin upper lip, long philtrum, pear-shaped nose, sparse, eyebrows, prominent forehead ND Sparse hair
PHP09-D 5m 9m F No N ND NA ND −2.8 SD −2.4SD thin upper lip, long philtrum, rounded nose, sparse eyebrows, prominent forehead, separated eyes ND ND ND Sparse hair
PHP10 33y F No N ND Generalized shortening, stubby fingers (no X-ray received) ND ND ND thin upper lip, long philtrum, pear-shaped nose ND ND ND Sparse hair
PHP10-S   1y7m M No N ND NA ND Growth failure Growth failure thin upper lip, long philtrum, rounded nose, sparse eyebrows, low-set ears ND ND ND Sparse hair, strabismus
PHP10-D   6y F No N ND Yes (no X-ray) ND ND ND thin upper lip, long philtrum, rounded nose, sparse eyebrows, anteverted ears ND ND ND Sparse hair, strabismus
PHP11 (P3 [34]) 11.5y 12y F N N N MT: IV N −1 SD N No Yes (13.5 years) (final height below target height) No Advanced bone age
PHP12 [35] 10y 12y F No N ND MT: II-V TP: I & III No 148.7 cm (−0.4SD) 1.7 SD round face, long philtrum Yes (12y) No short neck, descended and widely separated nipples
PHP13 28y F No N ND Severe (especially IV & V MT) (no X-ray received) Yes 139 cm (-4SD) p3-p10 small saddle nose, prominent forehead, epicanthal folds, upward slanting palpebral fissures, low and dysplastic ears maxillonasal hypoplasia with severe prognathism No micrognatia fine and sparse hair, parse eyebrows, café-au-lait spots, severe myopia
PHP14 10y F No N ND MT: V (no X-ray received) ND 130.6 cm (-1SD) 85th ND clinodactyly, cone-shaped phalangeal epiphyses ND ND
PHP15 17y F No N ND MT: IV (no X-ray received) No p45 p75-p90 round face, facial asymmetry ND ND hypothyroidism
PHP16 16y M No (after Vit. D treatment) N (after Vit. D treatment) Low levels at first MT: IV & V (no X-ray received) ND ND (Obesity) Dental malformations acanthosis nigricans, short neck, hyperinsulinism
PHP17 9y7m F No N ND MP: II-V at least. (BDA1?) ND −2,2SD + 2,7SD prominent forehead, depressed nasal root rhizomelia No ND increased subarachnoid space, ventriculomegaly, bilateral frontotemporal cortical atrophy, ectopic neurohypophysis
PHP18 9y11m M No N N Stubby digits MT: III-IV at least No 117 cm (−3,38SD) N flattening of nasal ridge stocky build, hip hypoplasia, horizontal acetabulum, varum deformity, shortened tibia and femur, decreased interpedicular distance, scoliosis, bone dysplasias ND ND
PHP19 65y F No N N MT: IV No (SS) ND big nose, thin upper lip ND
PHP20 15y5m M No N N MT: IV & V No 143,5 cm (−3,9SD) + 4,22SD ND ND ND delayed puberty
PHP21 10y F N (TSH mildly increased) N ND MT: IV; TP: I No p30 N prominent forehead, periorbital hyperpigmentation, long palpebral fissure, deep philtrum, thick eyebrows ND ND
PHP22 13y F N N ND MP: II & V (BDA4?) No p50 + 1.5SD N Bilateral cubitus valgus, short forearms, exostosis in both tibia, dorsolumbar hyperkyphosis in D12-L1 ND N bicornuate uterus, short neck, wide thorax
PHP23 8y1m F No N N MT: IV & V (mild) and clinodactyly of V Mild +3SD > + 3SD round face, thin upper lip, pear-shaped nose, sparse, arched eyebrows ND ND sparse hair, epilepsy
  1. P patient, S son, D daughter, PTHr PTH resistance, Vit. D vitamin D, Ca calcemia, P phosphatemia, BD brachydactyly, MR mental retardation, N normal, NA not assessable due to short age, ND no data, MT metacarpal, TP telophalanx, MP mesophalanx, BP basophalanx, X-ray radiography, SD standard deviation, SS short stature