Birth weight | 75–90th centile | 75–90th centile | 75–90th centile |
Birth length | >90th centile | 90th centile | >90th centile |
Findings at birth | Pulmonary stenosis; bilateral cryptorchidism (underwent orchidopexy) | Pulmonary stenosis | Pulmonary stenosis, aortic regurgitation |
Diagnosis (fig 1) | Age 4, noted to have facial enlargement; underwent jaw biopsy: cherubism | Age 4, noted to have facial enlargement; underwent jaw biopsy: cherubism | Age 8, routine dental x ray showed radiolucent lesion in lower jaw; underwent biopsy: cherubism |
Development | Normal, except decreased height; age 11, developed diplopia/ proptosis from expanding giant cell lesions in maxilla; underwent decompression to correct vision, no sequelae; pathology report consistent with cherubism | Normal, two extremity fractures with normal healing | Mild developmental delay, requires speech therapy |
Physical examination | Weight: 10–25th centile | Weight: 25–50th centile | Weight: 10th centile |
| Height: 3rd centile | Height: 75th centile | Height: 25th centile |
Face (fig 2) | Marked fullness; slanting palpebral fissures, hypertelorism; ICD: 37 mm (32.8 (2.8) mm); IPD >97th centile; epicanthic folds, low set ears with cupping;, normal hearing; right post-auricular involuted haemangioma (2×3 cm); low anterior and posterior hairline; narrow maxilla, high palatal arch, large anterior open bite, retrognathic mandible, bilateral submandibular lymphadenopathy; short neck | Marked lower facial fullness; slanting palpebral fissures, lid ptosis; low set, posteriorly angulated ears; normal hearing; 1.5×2 cm involuted haemangioma on posterior neck; low anterior hairline; large anterior open bite, prognathic mandible, high palatal arch, narrow maxilla; bilateral submandibular lymphadenopathy | Very mild lower facial fullness; slanting palpebral fissures, lid ptosis low set, posteriorly angulated ears with moderate cupping, normal hearing; low posterior and anterior hairline; high palatal arch, hypernasal speech, short neck |
Chest | Prominent A-P dimension, mild inferior pectus excavatum, II/VI systolic ejection murmur at left sternal border | Moderate superior pectus carinatum, mild inferior pectus excavatum, increased internipple distance; II/VI systolic ejection murmur at left sternal border; multiple lentigines on trunk, back; café au lait spot on abdomen | Mild inferior pectus excavatum, II/VI systolic ejection murmur, multiple nevi on back, café au lait spot on chest (4×6 cm) |
Extremities | Bilateral cubitus valgus, fifth digit clinodactyly | Fourth/fifth digit clinodactyly, lentigines hands/arms | Bilateral cubitus valgus, fifth digit clinodactyly |
Genitals | Normal | Normal | Normal |
Laboratory tests | CBC, serum chemistries (chem20), liver function tests, thyroid function tests, parathyroid hormone, urinary/serum bone markers normal in all 3 patients | | |
Ca, ion (1.17 to 1.31) | 1.34 mmol/l | 1.34 mmol/l | Normal |
PTT (23.4 to 34.5 s) | 38.5 s | 37.2 s | 45.5 s |
PT (11.8 to 14.7 s) | 15.7 s | 14.1 s | 17 s |
Factor levels | Normal | Normal | Normal |
Radiology | Bone age was consistent with chronological age for all 3 patients | | |
Skeletal survey | Generalised osteopenia | Generalised mild osteopenia | Generalised osteopenia |
Face CT | Radiolucent lesions in maxilla, mandible | Radiolucent lesions in mandible | Radiolucent lesions in mandible |
z Score* | −3.0 lumbar spine (DEXA scan) | −3.1 lumbar spine (DEXA scan) | −2..03 lumbar spine (qCT densitometry) |
t Score† | −7.0 distal radius (DEXA scan) | | |
| −2.2 proximal femur (DEXA scan) | | |