Table 2

Phenotype of three patients with Noonan-like/multiple giant cell lesion syndrome

	Patient 1 (13 year old male of Italian descent)	Patient 2 (9 year old female of German descent)	Patient 3 (10 year old male of Italian descent)
*z Score: standard deviation of the average bone mass to age matched controls.
†t Score: standard deviation of the average peak bone mass to a young normal population, not age matched controls.
CBC, complete blood count; CT, computed tomography; DEXA, dual energy x ray absorptiometry; ICD, intercanthal distance; PT, prothrombin time; PTT, partial thromboplastin time; qCT, quantitative computed tomography.
Birth weight	75–90th centile	75–90th centile	75–90th centile
Birth length	>90^th 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)