1/210. Growth hormone insufficiency in a girl with the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an inherited disease which may comprise many endocrine and non-endocrine components. GH insufficiency has not been recognised as a classical manifestation of this syndrome. We describe the case of a girl with APECED, who presented with four endocrine (hypoparathyroidism, Addison's disease, hypothyroidism, gonadal failure) and three non-endocrine components (candidiasis, ectodermal dystrophy and lichen ruber planus). In addition, growth failure was documented beginning at approximately 8 years; bone age was delayed and stimulated GH peaks after clonidine and arginine were 2.2 and 9.2 microg/l, respectively. A partial empty sella was found on a computed tomography scan of the hypothalamic-pituitary region. At 10.5 years rhGH therapy was started and height gain of 26 cm was observed after 2.7 years of treatment. puberty started at 11.2 years and menarche occurred at 12.7 years. At 13.25 years rhGH therapy was discontinued owing to frequent hypocalcemic crises; serum IGF-1 levels were persistently low in the following years (between 160 and 180 microg/l, normal range for age 250-600 microg/l). The patient attained a final height of 160.8 cm, which was appropriate for her target height. The presence of lichen ruber planus and GH insufficiency probably secondary to empty sella are two unusual findings in patients with APECED.- - - - - - - - - - ranking = 1keywords = endocrine, bone (Clic here for more details about this article) |
2/210. Long-term follow-up of skeletal dysplasia in thalassaemia major.We report skeletal changes due to deferoxamine (DF) in 15/29 patients with transfusion-dependent thalassaemia major (TM), followed longitudinally for growth assessment. Clinically the earliest signs were decline in height and/or sitting height growth rate, leg and back pain with restricted movement and limb deformity. Radiologically metaphyseal and spinal changes were seen in 5 subjects and vertebral lesions alone in 10. The metaphyseal changes were mild, moderate or severe and affected all long bones, but were most pronounced at wrists and knees. They progressed from widening of the growth plate and defects of metaphyseal margins to appearance of radiolucent pseudocystic areas and, in severe cases, of cupped, rickets-like metaphyses. The spinal changes proceeded from osseous defects of ventral upper and lower edges of vertebrae and biconvex contours of end-plates to platyspondyly with decreased vertebral body height. After DF dose reduction, metaphyseal changes regressed in 2 patients, while they progressed in 3, requiring corrective surgery for severe valgus knee. Spinal abnormalities either remained unchanged or progressed. Final height was very short in patients with spondylometaphyseal lesions, short and disproportionate in patients with only spinal involvement.- - - - - - - - - - ranking = 0.022937939219254keywords = bone (Clic here for more details about this article) |
3/210. Ophthalmic findings in GAPO syndrome.BACKGROUND: The main manifestations of GAPO syndrome are growth retardation (G), alopecia (A), pseudoanodontia (P), and optic atrophy (O). CASES: This syndrome has been described in 21 patients from 16 different families. Four cases are from turkey and have been presented by Sayli and Gul. The purpose of our study is to document the cases from turkey and discuss the ophthalmological and neuro-ophthalmolgical findings of these and other reported GAPO cases. OBSERVATIONS: All patients in the literature and our 4 cases have severe growth retardation with delayed bone age in infancy, characteristic facial appearance (high and bossed forehead, midface hypoplasia), alopecia or severe hypotrichosis, and pseudoanodontia. optic atrophy was present in 1 of our cases and in 5 previous cases. glaucoma was present in 5 cases, including 2 of ours. Buphthalmia and keratopathy secondary to glaucoma were also observed. White eyelashes, seen only in our cases, may be a sign of "early senility." CONCLUSIONS: optic atrophy is not a constant finding in GAPO syndrome. glaucoma may accompany the ocular findings. This syndrome has been attributed to either ectodermal dysplasia or the accumulation of extracellular connective tissue matrix, due to an enzyme deficiency involved in its metabolism. Current studies show that an elastin defect and secondary changes in collagen may be important in the pathogenesis of the disease.- - - - - - - - - - ranking = 0.022937939219254keywords = bone (Clic here for more details about this article) |
4/210. Acrodysplasia, severe ossification abnormalities with short stature, and fibular hypoplasia.We present a girl with short stature, growth hormone neurosecretory dysfunction, severe hypoplastic/aplastic changes of the bones of the hands and feet with dysharmonic ossification, severely delayed bone age, microcrania, and fibular hypoplasia. Parental consanguinity suggests autosomal recessive inheritance. An additional three cases [Eiken et al., 1984: Eur J Pediatr 141: 231-235] sharing some of the radiographic manifestations of this patient have been reported. However, distinctive findings in the present case seem to outline a separate entity.- - - - - - - - - - ranking = 0.045875878438507keywords = bone (Clic here for more details about this article) |
5/210. Effects of puberty on bone age maturation in a girl after medulloblastoma therapy.BACKGROUND: Craniospinal radiotherapy for malignant brain tumors can result in a variety of neuroendocrine disturbances, among which are the development of growth hormone deficiency and early puberty, which can markedly reduce adult height. methods: The authors report the case of a girl who received craniospinal radiotherapy for a medulloblastoma at the age of 3.4 years. At 9.1 years, growth hormone therapy was started, and spontaneous onset of puberty (Tanner stage B2) occurred at age 10.3 years. Interval until menarche was short, at only 0.9 years. RESULTS: Although chronologic age at appearance of Tanner stages was within the normal range, the patient showed a rapid acceleration in skeletal maturation, resulting in adult short stature. CONCLUSION: Bone age seems to be a more precise parameter for biologic maturation in some patients after craniospinal irradiation than is clinical assessment of pubertal stages. Thus, if progression of bone age and decreasing final height predictions are noted, puberty should be stopped with gonadotropin-releasing hormone analogs, even if pubertal development seems to be adequate for chronologic age, because this increases the remaining time for growth hormone treatment.- - - - - - - - - - ranking = 0.35895521129145keywords = endocrine, bone (Clic here for more details about this article) |
6/210. Say syndrome: report of a familial case.We describe a new case of Say syndrome. This syndrome is an autosomal dominant condition characterized by cleft palate, short stature of prenatal onset, large protruding ears and microcephaly, delayed bone age, and renal anomalies. The first report was in 1975 by Say et al. in three generations of a family. Three additional reports of isolated cases were published. Our propositus is a 12-month-old boy with the cardinal signs of the syndrome whose mother has only microcephaly. To our knowledge this is the second familial report with evidence of highly variable expressivity. The occurrence of renal anomalies in a son of a normal sister of his mother suggests incomplete penetrance.- - - - - - - - - - ranking = 0.022937939219254keywords = bone (Clic here for more details about this article) |
7/210. Brachmann-de lange syndrome: a cause of early symmetric fetal growth delay.Brachmann-de lange syndrome is characterized by pre- and postnatal growth retardation, microbrachycephaly, hirsutism, various visceral and limb anomalies and a typical face. A sonographic prenatal diagnosis at mid-trimester is reported in a case of severe, symmetrical fetal growth delay at 20 weeks gestation, with a thickened skin on the forehead, a small nose and a marked depressed nasal bridge, a long philtrum, micrognathia and a persistently flexed right forearm, with a single bone associated to oligodactyly. Due to the severe mental impairment with a commonly estimated intelligence quotient under 60, the pregnancy was terminated after parental consent.- - - - - - - - - - ranking = 0.022937939219254keywords = bone (Clic here for more details about this article) |
8/210. Familial generalized delayed eruption of the dentition with short stature.1. Prolonged retention of the deciduous dentition, subsequent delay in eruption of the permanent dentition, and retardation in dental maturation are displayed outside the limits of normal variation. 2. The pedigree study of this family reveals the trait of noneruption to be distributed in a characteristic pattern of autosomal dominance. 3. Short stature was noted in this family and placed in the lowest limits of short stature as recorded in standard reference charts. 4. Additional findings included concave midfacial appearance, frontal bossing, delayed skeletal maturation, presence of Wormian bones in the lamboidal suture region of the skull, and strikingly large fontanelles in infancy. 5. The pedigree described represents a syndrome of short stature and delayed eruption of the dentition.- - - - - - - - - - ranking = 0.022937939219254keywords = bone (Clic here for more details about this article) |
9/210. Identification of short stature caused by SHOX defects and therapeutic effect of recombinant human growth hormone.Point mutations or complete deletions of SHOX, the short-stature homeobox-containing gene on the pseudoautosomal region of the sex chromosomes (Xp22 and Yp11.3), were recently reported in one family with idiopathic short stature and in several families with Leri-Weill syndrome (dyschondrosteosis). The missing SHOX is also thought to attribute to the growth failure in turner syndrome. For testing the frequency of defects of SHOX in unexplained growth failure and recombinant human GH (rhGH) as a possible growth-promoting agent, we selected 68 children with idiopathic short stature. These probands had heights below -2.0 SD score for age, normal target heights, no significant bone age retardations, no endocrine abnormalities, no skeletal diseases, and no other organic diseases. No mutations were detected by single-strand conformational polymorphism analysis of the PCR-amplified SHOX. The analysis of three microsatellite dna markers of the pseudoautosomal region, including one located on the 5' untranslated region of SHOX-exon 1, identified a 15-yr-old girl who carried a mutation in the form of a complete SHOX deletion. This girl who had a normal karyotype presented with mild mesomelic shortening of the forearms and lower legs. We treated two children with short stature on the basis of a SHOX point mutation (C674T) with rhGH at a dose of 1.0 IU/kg body weight-week in accordance with the regimen used in turner syndrome. During the first 12 months of treatment, these two children (5.9- and 8.4-yr-old) showed an excellent growth spurt with a growth rate of 9.5 and 9.4 cm/yr, respectively. Growth of the lower extremities was weaker than in the trunk and arms. Our data suggest that short stature due to SHOX deletions is not a rare entity. Growth-promoting therapy with rhGH was effective with regard to height gain, but a tendency to disproportionate growth was apparent. In cases of unexplained growth failure, especially if associated with any mild skeletal disproportions, genetic analysis of SHOX should be considered.- - - - - - - - - - ranking = 0.26720345441444keywords = endocrine, bone (Clic here for more details about this article) |
10/210. Developmental coxa vara associated with spondylometaphyseal dysplasia (DCV/SMD): "SMD-corner fracture type" (DCV/SMD-CF) demonstrated in most reported cases.BACKGROUND: This paper reports three children with short stature: developmental coxa vara unilateral in the first case and bilateral in the other two; somewhat squared and "ovoid" vertebral bodies in the first patient, and normal to slightly tall vertebral bodies in the third; metaphyseal changes in some long tubular bones including bone fragments similar to the corner fractures seen in child abuse in all three patients. MATERIALS AND methods: The first and second patients were sisters; their mother, also quite short, had surgical procedures in early life for bilateral "coxa vara"; their brother, also of short stature, had bilateral coxa valga with otherwise normal femoral heads and necks, and mild metaphyseal changes associated with two minute "corner fractures" in the proximal metaphysis of the left tibia. RESULTS: A review of reported cases of developmental coxa vara associated with spondylometaphyseal dysplasia revealed that simulated corner fractures were present in most instances.- - - - - - - - - - ranking = 0.045875878438507keywords = bone (Clic here for more details about this article) |
| | Next -> |