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