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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines

Fig. 2

Images of individuals with MADB at chronological ages. Photographic images of a total body showing typical lipodystrophy; b facial features showing facial lipoatrophy, and mandibular hypoplasia; c oral region and teeth showing dental crowding, high palate; d skin showing calcified skin nodules and mottled, sclerodermic and atrophic skin in from left to right: patient, abdomen, legs (patient III, IV), arms (patients IV, V, IV, VI, VII) and abdomen e skull showing brittle and/or sparse hair; f hands and g feet showing acro-osteolysis of distal phalanges, shortened phalanges, joint contractures, hypoplastic nails, palmar and plantar atrophy of the hand and feet and calluses. X-rays of patient III showing h acro-osteolysis of the distal phalanges and i diminished occipital ossification (indicated by white arrows)

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172