Stüve–Wiedemann syndrome and related bent bone dysplasias

Akawi, Nadia; Ali, Bassam R.

doi:10.1111/j.1399-0004.2012.01852.x

Cited by 22 publications

(22 citation statements)

References 85 publications

(167 reference statements)

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“…However, the two main criteria used by the investigator included an island (apophysis) of chondrocytes in the diaphysis, and an irregular growth plate (381). Islands or protuberances of cartilage into bone and an irregular growth plate are not standard or defining criteria for rickets and can be seen in a variety of other congenital bone disorders, including achondroplasias, osteopetrosis, collagen disorders, and other skeletal dysplasias (16,88,268,503,550,680). The defining histological criterion for rickets is increased osteoid (unmineralized bone), but the report did not describe this.…”

Section: Observational Studies and Case Reportsmentioning

confidence: 95%

Bone Development and Mineral Homeostasis in the Fetus and Neonate: Roles of the Calciotropic and Phosphotropic Hormones

Kovacs

2014

Physiological Reviews

211

188

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Mineral and bone metabolism are regulated differently in utero compared with the adult. The fetal kidneys, intestines, and skeleton are not dominant sources of mineral supply for the fetus. Instead, the placenta meets the fetal need for mineral by actively transporting calcium, phosphorus, and magnesium from the maternal circulation. These minerals are maintained in the fetal circulation at higher concentrations than in the mother and normal adult, and such high levels appear necessary for the developing skeleton to accrete a normal amount of mineral by term. Parathyroid hormone (PTH) and calcitriol circulate at low concentrations in the fetal circulation. Fetal bone development and the regulation of serum minerals are critically dependent on PTH and PTH-related protein, but not vitamin D/calcitriol, fibroblast growth factor-23, calcitonin, or the sex steroids. After birth, the serum calcium falls and phosphorus rises before gradually reaching adult values over the subsequent 24 -48 h. The intestines are the main source of mineral for the neonate, while the kidneys reabsorb mineral, and bone turnover contributes mineral to the circulation. This switch in the regulation of mineral homeostasis is triggered by loss of the placenta and a postnatal fall in serum calcium, and is followed in sequence by a rise in PTH and then an increase in calcitriol. Intestinal calcium absorption is initially a passive process facilitated by lactose, but later becomes active and calcitriol-dependent. However, calcitriol's role can be bypassed by increasing the calcium content of the diet, or by parenteral administration of calcium.

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Section: Observational Studies and Case Reportsmentioning

confidence: 95%

Bone Development and Mineral Homeostasis in the Fetus and Neonate: Roles of the Calciotropic and Phosphotropic Hormones

Kovacs

2014

Physiological Reviews

211

188

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“…Most of these families were originally from Oman and Yemen. The molecular analysis revealed a founder mutation in the Leukemia Inhibitory Factor Receptor gene ( LIFR ; 653_654 insT at exon 6) in these families [50,51] .…”

Section: Stuve-wiedemann Syndromementioning

confidence: 99%

Consanguinity and Dysmorphology in Arabs

Al‐Gazali

Hamamy²

2014

Hum Hered

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Incidence rates of congenital disorders among the 350 million inhabitants of Arab countries could be influenced via the people's demographic and cultural characteristics. Arabs usually marry at a young age and have large families. They share certain core cultural values and beliefs, with the family accepted as the central structure of society. Consanguineous marriage is favored and respected in most if not all Arab communities, and intrafamilial unions currently account for 20-50% of all marriages. First-cousin unions are especially popular and constitute almost one quarter of all marriages in many Arab countries. Consequently, autosomal recessive (AR) dysmorphic syndromes constitute a considerable proportion of all birth defects among Arabs. Arab geneticists, with their persistent commitment to advancing research, have contributed to the description of a number of rare and new AR syndromes with the identification of novel genes. The collaboration with research teams in high-income countries resulted in a plethora of data on pathogenic variants and their function in causing dysmorphic syndromes. There could still be a considerable number of rare dysmorphic syndromes that prevail among Arabs which are not hitherto described and whose underlying molecular pathologies are not yet defined. Arab countries should thus strive to deploy DNA diagnostics and to build research capability around local priorities. Furthermore, a characterization of the prevailing genetic disorders in each geographic location, together with their mutations, is needed to plan for appropriate screening and testing protocols. An overview of consanguinity in Arab countries and examples of dysmorphology syndromes associated with consanguinity with their available molecular bases will be discussed.

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“…Null mutations in the LIFR gene have also been found to cause both SJS-2 and STWS, leading to the conclusion that these disorders should be considered a single, homogeneous disease. 7 …”

Section: Discussionmentioning

confidence: 99%

“…Another differential diagnosis is kyphomelic dyslasia [MIM #211350], a probable X-linked, autosomal recessive disorder with major incurvature of the femur and short stature, sometimes associated with immunodeficiency. 7 Management of STWS is symptomatic, requiring intensive care initially, including attention to feeding and nutrition, physiotherapy, and orthopedic intervention for the progressive skeletal abnormalities and osteopaenia in the few long term survivors. 8 The main cause of death in infancy is aspiration pneumonia due to defective swallowing, which improves with age in some patients.…”

Section: Discussionmentioning

confidence: 99%

One in Three : Congenital Bent Bone Disease and Intermittent Hyperthermia in Three Siblings with Stuve-Wiedemann Syndrome

Koul¹,

Al-Kindy²,

Mani³

et al. 2013

SQUMJ

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Stuve-Wiedemann syndrome (STWS) is a rare disorder characterised by congenital bowing of the long bones, contractures of the joints, neonatal onset of respiratory distress, sucking and swallowing difficulties, dysautonomia presenting as episodic hyperthermia, and usually an early death. Three siblings from a consanguineous marriage presented with similar clinical features over 16 years. STWS was established with their last child at the beginning of 2012. All the children exhibited the onset of STWS in the neonatal period with fever and generalised hypotonia. Examinations of all the infants revealed camptodactyly, micrognathia, bent long bones with wide metaphyses, and hypotonia. Only the second affected child had myotonia, demonstrated by electromyography. Unusual pyrexia as a presenting feature in this syndrome needs early recognition so that extensive and elaborate investigations can be avoided. The disorder is usually caused by a mutation in the leukaemia inhibitory factor receptor gene.

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Stüve–Wiedemann syndrome and related bent bone dysplasias

Cited by 22 publications

References 85 publications

Bone Development and Mineral Homeostasis in the Fetus and Neonate: Roles of the Calciotropic and Phosphotropic Hormones

Bone Development and Mineral Homeostasis in the Fetus and Neonate: Roles of the Calciotropic and Phosphotropic Hormones

Consanguinity and Dysmorphology in Arabs

One in Three : Congenital Bent Bone Disease and Intermittent Hyperthermia in Three Siblings with Stuve-Wiedemann Syndrome

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