1,721,030 research outputs found
Oto-Palato-Digital syndrome in four generations of a large family.
No full textA new large family, affected by O-P-D syndrome is reported. Nine members in four consecutive generations have been studied. Computerized tomography study of spine and skull showed abnormalities to be confined to mesodermal derivates, while nervous structures were normal. Transmission pattern may be X-linked with intermediate expression in the female or autosomal dominant with sex limitation of expression
Angel-shaped phalanges in brachydactyly C: a case report, and speculation on pathogenesis. Pediatr Radiol. 2005 May;35(5):535-8. Epub 2004 Nov 23
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Radiology and histopathology of the bent limbs in campomelic dysplasia: implications in the aetiology of the disease and review of theories.
No full textThe study of the bent bones in a case of campomelic dysplasia and a review of the literature suggest a repair process at the site of angulation. A theory that can explain most of the features of the disease is presented; it supposes a damage of the cartilage model at the midshaft, followed by a fracture of the thin bone collar in the earlier stage of ossification of the diaphysis
Angel-shaped phalanges in brachydactyly C: a case report, and speculation on pathogenesis
No full textWe describe a woman and her daughter affected by brachydactyly type C. The unusual feature in the child included the striking angel-shaped appearance of the proximal phalanges of the index and middle fingers of one hand, whereas more typical triangular epiphyses with elongation of their radial side were present at the same location in the opposite hand. It is suggested that this peculiar phalangeal configuration occurs as a transitory event in early or mid childhood in phalanges that are marked by severe ossification delay, which is most prominent at the level of the primary ossification centre
Bone changes of mucolipidosis II at different ages. Post-mortem study of three cases.
No full textBone changes are a constant feature of mucolipidosis II, with striking differences between newborns and older children. Intracellular, membrane-bound vacuoles were found in the chondrocytes, osteoblasts, osteocytes, and stromal fibroblasts of three affected children. Osteoclasts and marrow cells were unaffected. Ricketslike lesions were present at birth in the two younger cases, whereas signs of high bone turnover and defective calcification were no longer present in the older child. Severe abnormalities of the metaphyseal plate with the loss of normal cartilage architecture and the absence of endochondral ossification were the major changes in this age grou
Case report 381: Membranous lipodystrophy (MLD).
No full textThis disease was recognized for the first time by Jarvi in 1964
and named "Hereditary Folycystic Osteodysplasia (HPO)" [5].
In 1973, Nasu et al. [6] reported an autopsied case that pre-
sented the same features as HPO and because of the histological
findings, the authors of that manuscript called the entity
"Membranous Lipodystrophy". Up to the present time only
27 cases have been reported in the world literature, exclusively
in four countries - Finland, Japan, Norway and the USA [1-7].
Mental changes and corresponding lesions of the central
nervous system have been associated often with MLD [1, 3,
6], but the relationship between pathological changes in the
skeleton and brain remains unclear. The etiology of the disease
is unknown. Hakola [3] reported three affected members in
the same family, but this observation was not confirmed in
other reports.
In summary, a fascinating case of an entity called "mem-
branous lipodystrophy" has been described in a 35-year-old
woman. Multiple, cyst-like disseminated, skeletal lesions were
present throughout (except for the spine, innominate bones,
ribs and skull). In addition, resorption of bone and a very
thin periosteum were identified. Coarse and irregular trabeculae
also were noted. Associated with the skeletal lesions in this
instance, were hydrocephalus, cerebral cortical atrophy and
multiple calcifications in the basal ganglia bilaterally.
The development of mental changes and lesions of the cen-
tral nervous system as indicated are said to be associated con-
sistently with MLD. The cause of the disorder is considered
to be unknown.
The pathological studies were described in depth and the
differential diagnosis was considered.
It is believed by the editor that this case report, describing
this entity, is a significant contribution to the literature on a
disease of great interest, probably unknown to many pphysicians
Chronic intoxication by ethane-1-hydroxy-1,1-diphosphonate (EHDP) in a child with myositis ossificans progressiva.
No full textChronic intoxication by ethane-1-hydroxy-1,1-diphosphonate (EHDP) in a child with myositis ossificans progressiva.
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