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PubMed2001

Endocrine dysfunction in Prader-Willi syndrome: a review with special reference to GH.

Prader-Willi syndrome is a genetic disorder occurring in 1 in 10,000-16,000 live-born infants. In the general population, approximately 60 people in every 1,000,000 are affected. The condition is characterized by short stature, low lean body mass, muscular hypotonia, mental retardation, behavioral abnormalities, dysmorphic features, and excessive appetite with progressive obesity. Furthermore, morbidity and mortality are high, probably as a result of gross obesity. Most patients have reduced GH secretory capacity and hypogonadotropic hypogonadism, suggesting hypothalamic-pituitary dysfunction. Replacement of GH and/or sex hormones may therefore be beneficial in Prader-Willi syndrome, and several clinical trials have now evaluated GH replacement therapy in affected children. Results of GH treatment have been encouraging: improved growth, increased lean body mass, and reduced fat mass. There was also some evidence of improvements in respiratory function and physical activity. The long-term benefits of GH treatment are, however, still to be established. Similarly, the role of sex hormone replacement therapy needs to be clarified as few data exist on its efficacy and potential benefits. In summary, Prader-Willi syndrome is a disabling condition associated with GH deficiency and hypogonadism. More active treatment of these endocrine disorders is likely to benefit affected individuals.

Adolescent↗
PubMed2002

Factors associated with dysmorphic concern and psychiatric morbidity in plastic surgery outpatients.

OBJECTIVES: To compare new referrals to a plastic surgery clinic for cosmetic (non-medically explained) reasons with a control group of equal size with medically explained symptoms. METHOD: Patients attending for cosmetic (non-medically explained) reasons were compared with the controls using the general health questionnaire (GHQ), and dysmorphic concern questionnaire (DCQ). Patients were divided into high and low DCQ scores on the basis of their median scores. RESULTS: Ninety subjects were approached of whom 84 (93%) participated giving 42 patients each in the cosmetic (non-medically explained) and control groups. Forty-four per cent were referred for mammoplasty (n = 37) and 8% for rhinoplasty (n = 7). The other 40 cases (48%) were for other procedures including excision, abdominoplasty and blepharoplasty. Thirty-two per cent of the sample were GHQ cases (n = 27). Patients presenting for cosmetic (non-medically explained) reasons were 13 times more likely to be female (95% CI = 4.3-41), nine times more likely to have high DCQ scores (95% CI = 3.3-24), six times more likely to be GHQ cases (95% CI = 2.1-17), and seven times more likely to present for mammoplasty. The same factors were associated with high DCQ scores. Patients with high DCQ scores were 32 times as likely to be GHQ cases (95% CI = 6.8-151). On multivariate analysis, dysmorphic concern emerged as the only independent predictor of GHQ caseness rather than sex, surgical diagnosis or procedure (adjusted OR = 32.0, 95 % CI = 6.5-156). Similarly, only GHQ caseness and presentation for cosmetic (non-medically explained) surgery independently predicted DCQ score. CONCLUSIONS: Patients presenting for cosmetic (non-medically explained) surgery have high rates of dysmorphic concern and psychiatric morbidity

Adult↗
PubMedDate not supplied

Anticipatory guidance for parents of Prader-Willi children.

Prader-Willi syndrome (PWS) is a complex genetic disorder. It is characterized by hypotonia, short stature, hypogonadism, mental retardation, behavioral problems, and hyperphagia, which result in excessive obesity (Lindgren et al., 2000). The abnormal body composition resembles children seen with growth hormone deficiency (Carrel & Allen, 2001) . The dysmorphic features characteristic of PWS include a narrow forehead, a broad nasal bridge, slightly up slanting almond-shaped palpebral fissures, a down turned mouth with a thin upper lip, and narrow hands and feet (Martin et al., 1998). Management of children with PWS requires an ongoing multidisciplinary approach. The delivery of care includes assistance from geneticists, nutritionists, internists, endocrinologists, physical therapists, and psychologists to meet the medical, developmental, behavioral, and social needs. The focus of the nurse practitioner should include assisting the family in the management of these complex patients throughout their childhood.

Adaptation, Psychological↗
PubMed2003

Growth and pubertal growth spurt in dysmorphic syndromes.

We describe peculiar aspects of growth and the pubertal growth spurt in dysmorphic syndromes, focusing our attention on the accelerated pubertal growth pattern in some dysmorphic syndromes leading to short stature (DSS). A normal pubertal growth spurt was observed in other dysmorphic syndromes leading to overgrowth (ODS).

Body Height↗
PubMed1998

Dysmorphic concern: prevalence and associations with clinical variables.

OBJECTIVE: The aim of this paper is to describe the development of a questionnaire, the Dysmorphic Concern Questionnaire (DCQ), for the assessment of dysmorphic concern, and to establish correlations with clinical variables. METHOD: Consecutive admissions to a psychiatric hospital were surveyed. RESULTS: The DCQ showed good internal consistency, with most of the variance being explained by a single factor. Strong correlations with distress and work and social impairment lend face validity to the questionnaire. Dysmorphic concern was not significantly influenced by the patient's age, sex or diagnosis. In terms of specific psychotic symptoms, there were weak positive correlations with thought interference and persecutory ideation. However, the strongest correlations were with depressed mood, according to the Beck Depression Inventory (BDI) but not the Montgomery Asberg Depression Rating Scale; the discrepancy was largely accounted for by the 'cognitive' depressive items on the BDI. In terms of objective assessment of dysmorphic features, ratings on the Waldrop scale for minor physical anomalies showed no correlation with concern expressed by the patient. CONCLUSIONS: The strong correlation with depressive cognitions suggests that dysmorphic concern is often a reflection of a depressive cognitive set rather than being a diagnosis in itself.

Adult↗
PubMed2004

Bone SPECT in management of mandibular condyle hyperplasia. Report of a case and review of literature.

In the present paper we report the case of a 14-year-old girl suffering from condylar hyperplasia and enlargement of ipsilateral jaw body, stressing the importance of bone SPECT in the clinical management of this temporomandibular joint (TMJ) disorder. Condylar hyperplasia is an uncommon idiopathic monolateral disorder of jaw growth consistent with exuberant or persistent activity of the condyle nucleus finally involving sociopsychological aspects due to facial dysmorphism. Besides facial asymmetry our patient showed prognathism, malocclusion, worsening otalgia and headache. Conventional X-rays examinations and multislice spiral CT gave us important morphostructural information also thanks to 3D volume-rendered and virtual reconstructions, while bone SPECT by detecting an intense well focused (99m)Tc-MDP uptake allowed to achieve uninvasively the final diagnosis of primary condyle hyperplasia. In spite of the full imaging characterization of TMJ disorders, consensus on best timing and therapeutic approaches on condylar hyperplasia is yet to be reached. In the present case patient was first treated orthodontically, planning a "high" condylectomy intervention after at least 6 months.

Adolescent↗
PubMed2005

Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation.

Spondyloepimetaphyseal dysplasias (SEMD) represent a heterogeneous group of conditions composed of at least 15 well-defined entities. The classification is based on clinical, radiological and molecular findings. Among them, several conditions also include a mental retardation (MR) syndrome, namely Wolcott-Rallison syndrome, Dyggve-Melchior-Clausen syndrome (DMC) and lysosomal storage disorders. Here, we report on a novel form of SEMD with MR in two Pakistani sisters born to first-cousin parents. SEMD, MR, microcephaly, ataxia, facial dysmorphism and hirsutism of back and legs were noted in the two children. Skeletal findings included flat vertebral bodies with irregular vertebral plates, irregular and flared metaphyses with vertical striations, small and irregular epiphyses, small carpal bones and narrow iliac wings without lacy pelvis iliac crest. Similarities with DMC prompted us to test and eventually exclude the DMC gene, dymeclin, by direct sequencing. Similarly, we excluded the PAPSS2 gene (3'-alpha phosphoadenosine 5'-phosphosulphate synthase 2) responsible for SEMD Pakistani type. The combination of features observed in the two sisters does not fit with any previously reported SEMD and represents therefore a novel form of autosomal recessive SEMD with MR.

Abnormalities, Multiple↗
PubMed1995

Growth hormone and dysmorphic syndromes.

In order to study the pathogenesis of short stature in some of the best known and most frequent dysmorphic syndromes, we have reviewed the most significant studies conducted on somatrotropin secretion and on response to replacement treatment with human growth hormone in pediatric patients. In particular, the study examines the results presented in the literature, and in a few of our cases, those obtained with regard to Noonan, Silver-Russell and Prader-Willi syndrome patients, to achondroplasia and hypochondroplasia patients, and to Down syndrome patients. Finally, we shall present a review of a few, less frequent dysmorphic syndromes with short stature, in which a growth hormone deficiency has been diagnosed and replacement treatment attempted.

Abnormalities, Multiple↗
PubMed1988

Multiple sulfatase deficiency.

Multiple sulfatase deficiency is an inherited disorder characterized by a deficiency of several sulfatases and the accumulation of sulfatides, glycosaminoglycans, sphingolipids, and steroid sulfates in tissues and body fluids. The clinical manifestations represent the summation of two diseases: late infantile metachromatic leukodystrophy and mucopolysaccharidosis. We present a 9-year-old girl with a phenotype similar to a mucopolysaccharidosis: short stature, microcephaly, and mild facial dysmorphism, along with dysphagia, retinal degeneration, developmental arrest, and ataxia. We discuss the importance of measuring the sulfatase activities in the leukocytes, and the instability of sulfatases in the cultured skin fibroblasts.

Cerebroside-Sulfatase↗
PubMed2005

Men, muscles, and body image: comparisons of competitive bodybuilders, weight trainers, and athletically active controls.

OBJECTIVES: To investigate body image and psychosocial adjustment among competitive bodybuilders, non-competitive weight trainers, and athletically active men. METHODS: Participants were 40 men in each of the three groups who were assessed on body composition and multiple facets of body image evaluation, investment and anxiety, eating attitudes, and social self esteem. RESULTS: Relative to the other two groups, competitive bodybuilders had greater body mass due to fat-free body mass. Although groups did not differ in their situational body image discomfort, competitive bodybuilders and weight trainers had a more positive global appearance evaluation and were more psychologically invested in their physical appearance. Compared with active controls, men in both weightlifting groups were more satisfied with their upper torso and muscle tone. Competitive bodybuilders reported more mid torso satisfaction than the other two groups. Competitive bodybuilders also wished to be significantly heavier than controls did and reported higher social self esteem but greater eating disturbance. CONCLUSIONS: The findings suggest that competitive bodybuilders as a group are not more "muscle dysmorphic" than either non-competitive weight trainers or physically active men who do not train with weights.

Adult↗
PubMed2004

Mosaic trisomy 15 in a short girl with hemihypotrophy and mental retardation.

We describe a girl with short stature, mild mental retardation, hemihypotrophy, atrial septal defect I, bilateral branchial cleft fistulas and abnormal skin pigmentation. Growth hormone deficiency and other frequent causes of short stature were excluded. Blood karyotype was investigated twice. In one sample an additional marker chromosome was found in one of 53 analysed metaphases, which could not be further characterized, whereas a second investigation showed a normal female karyotype. Cytogenetic studies in skin fibroblasts revealed a mosaic trisomy 15. Although mosaic trisomy 15 is a rare finding the diagnosis must be considered in the presence of pigmentary changes, body asymmetry, short stature and other minor dysmorphic signs even if blood karyotype is normal.

Abnormalities, Multiple↗
PubMed2002

Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: "D-CHRAMPS syndrome".

We here report a rather novel syndrome of dysmorphic features, short stature, microcephaly, alopecia, psychomotor retardation, retinitis pigmentosa and secondary amenorrhoea. This may present a new complex multisystem disorder distinct from those reported in the literature and we propose the acronym D-CHRAMPS for this novel disorder.

Adolescent↗
PubMed2004

Short stature, pulmonary hypertension, sclerodactyly-like involvement and dysmorphic appearance: a newly described syndrome?

We report a 21-year-old woman who has moderate to severe pulmonary hypertension, short stature, dysmorphic appearance, lipodystrophy and sclerodactyly-like involvement of her extremities. Cognitive development is in the low-average range. Various diagnoses have been suggested over the years, but none seem to fit her clinical presentation exactly. We suggest that she may have a previously undescribed connective tissue disorder with primary pulmonary involvement.

Adolescent↗
PubMed1996

A new familial short stature syndrome: Brussels type.

A new association of congenital familial short stature with facial dysmorphism and osteochondrodysplastic lesions is described in two siblings. Clinical abnormalities include severe prenatal and postnatal growth failure and facial dysmorphism. Radiographs show osteochondrodysplastic lesions with a narrow thorax, short ribs, epiphyseal maturation delay and slightly deformed metaphyses. Microscopic analysis of the skeleton shows pathological features.

Body Height↗
PubMed2002

Monopharmacologic general anaesthesia with sevoflurane in paediatric patient with Prader-Willi syndrome.

Prader-Willi syndrome (PWS) is a genetic disease caused by a loss of paternal genes located in chromosome 15. Children affected by this syndrome often have preterm delivery; during childhood the hallmarks are: severe infantile hypotonia and feeding problems. Afterward, neurologic manifestations, endocrine signs and dysmetabolic abnormalities are usually seen together with craniofacial manifestations and musculoskeletal abnormalities. Obesity causes sleep abnormalities including sleep apnea. The case we present is of a 5 year old child (CA) scheduled for strabismus surgery. The child has a lot of typical (PWS) signs. A number of anaesthesiologic problems are associated with (PWS). Some of them relate to obesity, others to facial dysmorphism. Moreover, the syndrome may give a prolonged and exaggerated response to every sedative drug. P.W.S. is also characterized by thermoregulatory disorders. Sleep apnea occurs often. Considering all these problems, we planned a monopharmacologic anaesthesiologic procedure using sevoflurane.

Anesthesia, Inhalation↗
PubMed2005

Primary ovarian failure and deletions of the long arm of chromosome 3.

A 14 year-old girl was found to have a deletion of the distal segment of chromosome 3 [46,XX,Del(3)(q28-29)]. The main features of this presentation were mild intellectual disability, facial dysmorphism, short stature, kypho-scoliosis, and primary ovarian failure, an association that has not been described before in association with chromosome 3 deletion. The phenotype and presentation are compared with those of previous case reports.

Adolescent↗