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PubMed2006

Somatropin therapy for children with prader-willi syndrome : guidelines for use.

Prader-Willi syndrome is a neurogenetic disorder that occurs due to the lack of a paternally expressed gene or genes on chromosome 15q11-q13. Many of the symptoms present in Prader-Willi syndrome are due to a hypothalamic-pituitary dysfunction. The main characteristics are muscular hypotonia, delayed psychomotor development, insatiable appetite resulting in overweight if a diet is not maintained, compromised growth and puberty resulting in a short final height and incomplete sexual development, respiratory disturbances, and dysmorphic features. Individuals with Prader-Willi syndrome have compromised growth and abnormal body composition with increased fat mass, decreased lean body mass, and low bone density, resembling a growth hormone-deficient status. Somatropin treatment has a beneficial effect on growth with increased final height and an improvement in and maintenance of body composition, as well as a beneficial effect on respiratory functions. Before initiating somatropin therapy, weight should be kept at an appropriate level, and polysomnography, as well as an otorhinolaryngologic examination should be performed. During somatropin therapy, carbohydrate metabolism and the development of scoliosis should be monitored, as well as bodyweight.A comprehensive team to manage the various components of medical, psychologic, and sociologic care is required for individuals with Prader-Willi syndrome.

Body Composition↗
PubMed1995

Does rational role-play enhance the outcome of exposure therapy in dysmorphophobia? A case study.

BACKGROUND: Dysmorphophobia may improve after a variety or combination of treatments, but which elements of a treatment are useful is usually not certain. METHOD: In a single out-patient case study rational role-play ('paradoxical discourse') was added to exposure plus cognitive restructuring (CR) for a dysmorphic delusion study comprised of 20-minute sessions one week apart. RESULTS: Previous exposure plus attempted CR had improved anxiety, phobias, work and social leisure, but not dysmorphic belief. Added brief rational role-play was followed by resolution of the dysmorphic belief. All measures remained much improved at 18-month follow-up. CONCLUSIONS: Rational role-play deserves a controlled trial in dysmorphophobia and other problems and exploration of its mechanism of action.

Adult↗
PubMed1993

[Meaning of the form and facial dysmorphism].

Face morphogenesis and its troubles disturb always the patient and its family. Why? Among the ways of research about these problems the Catastrophe Theory of R. Thom is helpful. In another way the terms and words used to explain the lesions and the troubles of self-perception are examined.

Body Image↗
PubMed1998

Two sisters with prenatal growth failure, disproportionate short stature, and feeding difficulties.

A familial short stature syndrome is described in two sisters. Clinical features include severe pre- and post-natal growth failure, stridor, feeding difficulties in the first 2 years requiring nasogastric feeding and facial dysmorphism reminiscent of Three M syndrome. Intellectual function is normal. Skeletal surveys show short long bones, small square iliac bones, short femoral necks and vertebral bodies which are short in the antero-posterior diameter with narrowing of the interpedicular distance inferiorly.

Bone Diseases, Developmental↗
PubMedDate not supplied

A case with ICF syndrome lost to rubella pneumonitis.

The immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a rare autosomal recessive disorder characterized by variable immunodeficiency, instability of the pericentromeric heterochromatin, and facial dysmorphism. Here we report a new case of ICF syndrome who died of rubella pneumonitis. A six year-old-girl who was the first child of consanguineous parents was admitted to the hospital because of bronchopneumonia. Laboratory investigations revealed pan-hypogammaglobulinemia, lymphoperria, normal proportions of peripheral blood lymphocytes with an inverted CD4/CD8 ratio, and interstitial pneumonia with a positive serology of acute rubella infection. The ICF syndrome was diagnosed by centromeric instability in the standard cytogenetic analysis. An inclusion body was demonstrated in the lung biopsy after the death of the patient. Chromosomal investigation could be helpful along with other tests for diagnosis of variable immunodeficiency accompanied by facial dysmorphism.

Abnormalities, Multiple↗
PubMed1998

Assessment of Turner's syndrome by molecular analysis of the X chromosome in growth-retarded girls.

Turner's syndrome (TS) is a common disorder (1/2500 to 1/5000 female births) which is diagnosed at birth in approximately 20% of patients and during childhood or at puberty for the rest. Growth retardation is the most frequent clinical feature of TS, so we systematically searched for TS in female patients referred to our center because of short stature. Three hundred seventy-five female patients, 1 month to 18 yr old (mean +/- SD = 9(7/12) +/- 3(9/12), with growth retardation (less than -2 SD) and/or decreased height velocity were included in the study. Mean growth retardation was -2.57 SD +/- 0.79 (range: -1 to -7). Thirty-two percent of the patients had reached puberty. GH provocative tests were performed in 329 patients (87.7%), and 36 of these patients (11%) had impaired GH secretion (5 complete and 31 partial GH deficiency). TS was evaluated by Southern blot analysis of leukocyte DNA using a multiallelic polymorphic X chromosome marker (88% heterozygosity rate). Y chromosome PCR analysis was carried out if a pattern indicative of TS was obtained. Leukocyte DNA analysis produced an abnormal restriction pattern for 20 of the 375 cases (5.3%). There was a single hybridizing band in 13 cases, an allelic disproportion indicative of mosaicism in 6 cases, and 3 hybridizing bands in 1 case. One patient tested positive in the Y chromosome PCR analysis. Cytogenetic analysis showed 47 XXX trisomy in the patient with a 3-hybridizing-band pattern and confirmed the diagnosis of TS for 17 of the 19 suspected cases: 45 X: n = 7; 45 X/46 Xi(Xq): n = 4; 45 X/46 XX: n = 2; 46 Xi(Xq): n = 1; 45 X/46 Xr(X): n = 1; 45 X/46 XX/47 XXX: n = 1; 45 X/46 XY: n = 1. Cytogenetic analysis was normal (46 XX) for the 2 other patients. The TS phenotype is variable: dysmorphism is often missing or mild (particularly in cases of mosaicism), but growth is reduced in virtually all patients. Screening of 375 growth-retarded girls identified 18 cases of TS, of which 17 were diagnosed by molecular analysis. This incidence (4.8%) was significantly higher than the expected incidence in this population (0.8-1.6%: P < 0.001).

Adolescent↗
PubMed1994

Feline mucopolysaccharidosis VII due to beta-glucuronidase deficiency.

A male cat 12-14 weeks old had walking difficulties and an enlarged abdomen. Facial dysmorphism, plump paws, corneal clouding, granulation of neutrophils, vacuolated lymphocytes, and a positive urine test for sulfated glycosaminoglycans suggested mucopolysaccharidosis. Cultured fibroblasts incorporated 35SO4 into mucopolysaccharides more actively than did fibroblasts of a feline control, and degradation was far inferior. Activity of beta-glucuronidase was absent in leukocytes and markedly reduced in fibroblasts, thus establishing the diagnosis of mucopolysaccharidosis VII, a disorder previously described in humans, dogs, and mice. Light microscopic examination revealed foam cells in virtually all organs examined, and electron microscopic examination showed pancytic storage of floccular material characteristic of mucopolysaccharides. Stored sphingolipids in the form of zebra bodies were seen in ganglion cells of the central nervous system and in smooth muscle cells of blood vessels. This case represents another animal model of mucopolysaccharidosis VII with the full disease characteristics known in human patients.

Animals↗
PubMed2003

[Extreme obesity in Prader-Willi Syndrome (PWS)].

INTRODUCTION: Prader-Willi Syndrome (PWS) belong to genetic obesities and we report a caricatural observation. DEVELOPMENT: The early onset of (PWS) is characterised by a severe neonatal hypotonia with poor suck reflex--which may lead to tube feeding--and poor weight gain. Later appears insatiable appetite, morbid obesity associated with short stature, dysmorphic syndrome with small hands and behavioural disorders. Although diagnosis is based on clinical features, it must be confirmed by genetic test looking for the characteristic deletion of the chromosome 15q11-q13 region. PWS is the first example in humans of genetic imprinting. CONCLUSION: Today, the challenge in PWS is it early management which may authorise Growth Hormone administration.

Adult↗
PubMed1995

[Angiokeratoma corporis diffusum without associated metabolic disorder].

In a 22-year-old woman with mental impairment and some signs of dysmorphism, numerous angiokeratomas developed, starting when she was 3 years old and resulting in the clinical picture of angiokeratoma corporis diffusum. Extensive laboratory analyses did not disclose any associated metabolic disorder,and electron microscopy failed to demonstrate lysosomal inclusions. Therefore, this patient can be classified as one of the rare cases of angiokeratoma corporis diffusum without associated metabolic disease (idiopathic angiokeratoma corporis diffusum).

Adult↗
PubMed1975

[Ultrastructure of the blood platelets in the newborn infant and in the young mongolian child. Study of 13 cases].

Blood platelets from infant and new born mongolians were examined and compared taking into consideration existing or non existing haematologic anomalies, such as transitory leucoblastosis with or without hyperthrombocytosis and acute leucosis without thrombopenia. These abnormalities were correlated with the analysis of control samples from haematologically normal new-born and premature children as well as samples from adult mongolian, patients with other chromosomal alterations (13-15, phi) and new-born or adults with thrombocytosis. The presence of dysmorphic platelets could be observed in variable degrees and numbers in all the mongolian samples. The characters of the morphologic abnormalities, constantly observed with variations due to pathological causes, denote either metabolic or structural thrombopathy.

Acute Disease↗
PubMed2001

[De La Chapelle syndrome].

OBJECTIVE: The De La Chapelle syndrome (XX male) is a peripheral hypogonadism concerning males with 46,XX karyotype. We conducted a retrospective study of 18 cases and report the main clinical biological and hormonal characteristics. PATIENTS AND METHODS: Clinical features (weight, height, aspect of the external genital organs, body hair, gynecomastia), hormone levels (testosterone, gonadotrophin, baseline and stimulated prolactin estradiol), and results of a Barr test and karyotype were recorded in all patients in addition to search for the SRY gene (in 8 of the 18 patients). Findings were compared with a matched male population and a Klinefelter syndrome population. RESULTS: Microrchidia was found in almost all the patients while the penis had a normal size. Signs of hypoandrogenism were frequent and gynecomastia was present in half the cases. De La Chapelle patients differed from Klinefelter patients by the absence of dysmorphism. DISCUSSION: Patients with De La Chapelle syndrome diagnosed around the age of 20 years do not have borderline disorders associating genitalia anomalies or sexual ambiguity. The majority of the patients bear the testis determining SRY gene on one of the X chromosomes, providing the rational explanation of the male phenotype, but 20% of the XX males doe not have this gene. The role of certain key genes that could be implicated in abnormal sexual differentiation is known, but the complexity and heterogeneous nature of this syndrome leaves many questions unanswered. Therapy is based on androgen replacement therapy given at an early stage.

Administration, Oral↗
PubMed1993

Clinical and biochemical phenotype in 11 patients with mevalonic aciduria.

OBJECTIVE: Mevalonic aciduria is a consequence of the deficiency of mevalonate kinase, the first enzyme after 3-hydroxy-3-methylglutaryl-coenzyme A reductase in the biosynthesis of cholesterol and nonsterol isoprenes. To establish the clinical and biochemical phenotype of mevalonic aciduria, the authors assembled their experience with 11 patients including attempts at therapeutic interventions. METHODS: Mevalonic acid in body fluids was determined by stable isotope dilution gas chromatography/mass spectroscopy with selected ion monitoring, ubiquinone-10 concentrations by reversed-phase high-pressure liquid chromatography. RESULTS: Varying degrees of severity of clinical illness were observed despite uniform, virtual absence of residual activity of the enzyme. The most severely affected patients have had profound developmental delay, dysmorphic features, cataracts, hepatosplenomegaly, lymphadenopathy, and anemia, as well as diarrhea and malabsorption, and have died in infancy. Less severely affected patients have had psychomotor retardation, hypotonia, myopathy, and ataxia. All patients have had recurrent crises in which there was fever, lymphadenopathy, increase in size of liver and spleen, arthralgia, edema, and a morbilliform rash. Neuroimaging studies revealed selective and progressive atrophy of the cerebellum. Mevalonic acid concentrations were found to be grossly elevated in body fluids of all patients. Concentrations of plasma cholesterol were normal or only slightly reduced. Concentrations of ubiquinone-10 in plasma were found to be decreased in most patients. Abnormalities such as hypoglycemia, metabolic acidosis, or lactic acidemia, the usual concomitants of disorders of organic acid metabolism, were conspicuously absent. CONCLUSIONS: These observations establish the broad range of clinical symptoms and biochemical findings in mevalonic aciduria. It is concluded that although patients with mevalonic aciduria have a recognizable phenotype of serious clinical manifestations, some patients are likely to remain undiagnosed and may be found in a variety of subspecialty clinics, including neurology, gastroenterology, cardiology, and genetics.

Abnormalities, Multiple↗
PubMedDate not supplied

The contribution of in vivo manipulation of gene expression to the understanding of the function of glypicans.

The name glypican identifies a family of heparan sulfate proteoglycans that are linked to the cell surface by a glycosylphosphatidylinositol anchor. Members of this family have been identified in Drosophila, zebrafish, and mammals. The interest in the study of glypicans has increased in the last few years as a result of the discovery that the glypican-3 gene (GPC-3) is mutated in an overgrowth and dysmorphic syndrome. Despite the increased interest, our knowledge about the function of glypicans is still limited, since the molecular basis for the role of glypican-3 in the regulation of body size remains unknown. The in vivo manipulation of glypican expression in lower organisms, however, has demonstrated that these proteoglycans can modulate cellular responses to Wnts and bone morphogenetic factors. Future studies should investigate whether the phenotype of GPC-3-deficient individuals is also due to altered modulation of cellular responses to these factors.

Animals↗
PubMed2002

Facial appearance in glycogen storage disease type III.

Amylo-1,6-glucosidase deficiency (glycogen storage disease type III) is associated with hypoglycaemia, hepatomegaly, raised transaminases and in most cases skeletal myopathy and cardiomyopathy. The disorder has not been considered to cause dysmorphism. We report consistent facial features in seven patients with GSD type III consisting of midface hypoplasia with a depressed nasal bridge and a broad upturned nasal tip, indistinct philtral pillars, and bow-shaped lips with a thin vermillon border. Younger patients had in addition deepset eyes. Several children had clinical problems such as persistent otitis media or recurrent sinusitis. The underlying aetiology of these features is unknown but the similarity in all our patient suggests that there is a facial phenotype for this disorder.

Body Height↗
PubMed2000

A case with 47,XXY,del(11)(q23) karotype-coexistence of Jacobsen and Klinefelter syndromes.

A case with 47,XXY, del(11)(q23) karyotype-coexistence of Jacobsen and Klinefelter syndromes: A two-year-old dysmorphic male child was found to have 47,XXY,del(11)(q23) karyotype. Domination of the clinical features of Jacobsen syndrome was observed: mild mental retardation, trigonocephaly, ptosis, downward slanting palpebral fissures, low set ears, carp-shape mouth and micrognathia. Transient thrombocytopenia and leukopenia were also present. Over the following five years gynecomastia and eunuchoid body proportions became evident as clinical features of Klinefelter syndrome. This is the first description of the coexistence of both syndromes.

Brain↗
PubMed2005

[When is a tall child too tall?].

3 children presented with tall stature. A 14-year-old girl of 179.6 cm was found to be within her target height range and was treated with oestrogen. A 15.5-year-old boy of 199,5 cm was beyond his target height range and was found to have a 47,XYY karyo- type; growth was inhibited with epiphysiodesis. A 12-year-old girl of 178.5 cm and very long legs was beyond her target height range but was found to have homocysteinaemia, a contraindication for hormonal- growth inhibition. her final height was 192 cm. Children growing above the 98th percentile of the growth curve are considered too tall. Most children with tall stature are constitutionally tall and remain within their target height range; no additional investigation is needed. In contrast, growth above this range or disproportionate growth and/or the presence of dysmorphic features in the child or parents warrants further investigation and may reveal important diagnoses. Height prediction based on bone age reading plays a key role in the management of tall children. Treatment with sex steroids may be used in an attempt to limit final height, but some conditions underlying tall stature are a contraindication for this treatment.

Adolescent↗
PubMed2004

Second female case of Myhre syndrome.

Myhre syndrome is a rare disorder characterized by low birthweight, short stature, mental retardation, facial dysmorphism (blepharophimosis, midfacial hypoplasia, prognathism), heart anomalies, muscle hypertrophy, decreased joint mobility and deafness. To date 11 male cases and only one female case have been reported. This paper describes the second female case and compares the clinical and radiological findings between female and male patients.

Abnormalities, Multiple↗
PubMed1989

Time and natural history: the changing face.

There is a considerable body of knowledge on the changing structures of the craniofacial complex in the anthropology literature, which dates back to the late 19th century. This awareness of change in phenotype has not been emphasized in dysmorphology and incorporated into syndrome diagnosis until recently. In contrast to the anthropological data, where serial craniofacial measurements document different rates of growth in the individual structures of the craniofacial complex, awareness of the evolution of phenotype, in dysmorphology, has been based on an appreciation of a changing gestalt. This work has been carried out principally in Noonan syndrome. Noonan syndrome is a cardiofacial syndrome in which affected individuals may be short and mildly mentally retarded. In this autosomal dominant disorder, a marked change of phenotype with age from the newborn period, infancy, childhood, adolescence, and adulthood has been documented. Similar variation with age is likely to be found in many other dysmorphic syndromes. Increasing insight into the evolution of phenotypes should markedly increase the potential for diagnosis.

Adolescent↗