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Greenberg Dysplasia

Hydrops-ectopic calcification-motheaten syndrome


Presentation

  • A familial case of three fetuses of a consanguineous Greek couple is presented including prenatal, physical, radiographic, histopathologic, and molecular genetic findings.[ncbi.nlm.nih.gov]
  • A case of Greenberg dysplasia [hydrops fetalis, ectopic calcifications, "moth-eaten" skeletal dysplasia (HEM)] is presented.[ncbi.nlm.nih.gov]
  • Affected fetuses typically present with fetal hydrops, short-limbed dwarfism, and a marked disorganization of chondro-osseous calcification, and ectopic ossification centers.[uniprot.org]
  • The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • […] at birth Multiple fractures, present at birth Numerous multiple fractures present at birth Numerous multiple fractures that are present at birth [ more ] 0005855 Neonatal death Neonatal lethal 0003811 Nonimmune hydrops fetalis 0001790 Omphalocele 0001539[rarediseases.info.nih.gov]
Pleural Effusion
  • effusion Fluid around lungs 0002202 Polyhydramnios High levels of amniotic fluid 0001561 Postaxial foot polydactyly Extra toe attached near the little toe 0001830 Postaxial hand polydactyly Extra little finger Extra pinkie finger Extra pinky finger [[rarediseases.info.nih.gov]
Barrel Chest
  • chest 0001552 Bone marrow hypocellularity Bone marrow failure 0005528 Bowing of the long bones Bowed long bones Bowing of long bones [ more ] 0006487 Broad palm Broad hand Broad hands Wide palm [ more ] 0001169 Cardiomegaly Enlarged heart Increased heart[rarediseases.info.nih.gov]
Hepatosplenomegaly
  • […] more ] 0008873 Epiphyseal stippling Speckled calcifications in end part of bone 0010655 Extramedullary hematopoiesis 0001978 Flared metaphysis Flared wide portion of long bone 0003015 Hepatic calcification 0006559 Hepatomegaly Enlarged liver 0002240 Hepatosplenomegaly[rarediseases.info.nih.gov]
Abnormal Teeth
  • teeth spacing Abnormality of alignment of teeth Abnormality of teeth spacing Crooked teeth Malaligned teeth Malposition of teeth Malpositioned teeth [ more ] 0000692 Multiple prenatal fractures Multiple fractures present at birth Multiple fractures,[rarediseases.info.nih.gov]
Cardiomegaly
  • […] inheritance 0000007 Barrel-shaped chest Barrel chest 0001552 Bone marrow hypocellularity Bone marrow failure 0005528 Bowing of the long bones Bowed long bones Bowing of long bones [ more ] 0006487 Broad palm Broad hand Broad hands Wide palm [ more ] 0001169 Cardiomegaly[rarediseases.info.nih.gov]
Prenatal Fractures
  • fractures Multiple fractures present at birth Multiple fractures, present at birth Numerous multiple fractures present at birth Numerous multiple fractures that are present at birth [ more ] 0005855 Neonatal death Neonatal lethal 0003811 Nonimmune hydrops[rarediseases.info.nih.gov]
Low Set Ears
  • ears Low set ears Lowset ears [ more ] 0000369 Macrocephaly Increased size of skull Large head Large head circumference [ more ] 0000256 Malar flattening Zygomatic flattening 0000272 Mesomelia Disproportionately short middle portion of limb 0003027 Metaphyseal[rarediseases.info.nih.gov]
High Forehead
  • forehead 0000348 Horizontal sacrum 0003440 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Hypoplasia of the maxilla Decreased size of maxilla Decreased size of upper jaw Maxillary deficiency Maxillary retrusion Small maxilla Small upper[rarediseases.info.nih.gov]
Low Nasal Root
  • nasal root [ more ] 0005280 Diaphyseal thickening Thickening of shaft or central part of long bones 0005019 Disproportionate short-limb short stature Short limb dwarfism, disproportionate Short-limbed dwarfism [ more ] 0008873 Epiphyseal stippling Speckled[rarediseases.info.nih.gov]
Nasal Bridge Depressed
  • bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Diaphyseal thickening Thickening of shaft or central part of long bones 0005019 Disproportionate[rarediseases.info.nih.gov]
Phenylketonuria
  • Phenylketonuria (PKU) was then shown to be a treatable genetic disease in which early diagnosis and effective treatment prevented the disease (mental retardation) in PKU.[books.google.de]

Workup

Shortened Long Bone
  • The radiological features included moth‐eaten severely shortened long bones and ectopic calcifications of long bones, vertebral column, ribs, pelvis, larynx, trachea.[doi.org]
  • Radiological abnormalities were striking, and included a motheaten appearance of extremely shortened long bones, and significant platyspondyly with poorly developed vertebral bodies. The thorax was narrow with short, beaded ribs.[jmg.bmj.com]
Enlargement of the Spleen
  • […] liver and spleen 0001433 High forehead 0000348 Horizontal sacrum 0003440 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Hypoplasia of the maxilla Decreased size of maxilla Decreased size of upper jaw Maxillary deficiency Maxillary retrusion[rarediseases.info.nih.gov]
Pleural Effusion
  • effusion Fluid around lungs 0002202 Polyhydramnios High levels of amniotic fluid 0001561 Postaxial foot polydactyly Extra toe attached near the little toe 0001830 Postaxial hand polydactyly Extra little finger Extra pinkie finger Extra pinky finger [[rarediseases.info.nih.gov]

Treatment

  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • ., exposure to a dietary component or a drug) were then seen to yield to treatment.[books.google.de]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • If you believe that you are suffering from any of the symptoms of Greenberg Dysplasia it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition.[medigest.uk]

Prognosis

  • Blood 89: 2079-88 3 Greenberg P, Cox C, LeBeau MM, Fenaux P, Morel P, Sanz G, Sanz M, Vallespi T, Hamblin T, Oscier D, Ohyashiki K, Toyama K, Aul C, Mufti G, Bennett J (1997) International scoring system for evaluating prognosis in myelodysplastic syndromes[codes.iarc.fr]
  • International scoring system for evaluating prognosis in myelodysplastic syndromes. Blood.[emedicine.medscape.com]
  • Atrial fibrillation is one of the types of arrhythmia which is most unfavorable for making the prognosis.[vestnik.vsmu.by]
  • Because of this frequency and the diversity of these conditions, it is essential that the practitioner be able to recognize a fetus, newborn, or child with a skeletal dysplasia so that the diagnosis can be established, the prognosis determined, and a[musculoskeletalkey.com]

Etiology

  • Etiology The causative gene has been recently identified as that encoding the lamin B receptor ( LBR gene), a member of the sterol reductase family.[orpha.net]
  • Identifying the precise etiology should be of prime importance in dealing with any chronic illnesses, the intervening family members are variably affected, and their clinical presentations should not be separated in the management from the actual causation[bioline.org.br]
  • 4058 (Fax) [email protected] International Skeletal Dysplasia Registry Location: Los Angeles, California The International Skeletal Dysplasia Registry at Cedars-Sinai Medical Center is a referral center for research into the diagnosis, management and etiology[lpamrs.memberclicks.net]
  • The etiology of this rare form has not been established, but it does not result from mutations COL1A1(I) or COL1A2(I) which are the responsible disease genes for most dominant forms of OI.[nature.com]

Epidemiology

  • Summary Epidemiology Less than ten cases have been published so far. Clinical description The main features include fetal hydrops, severe short-limbed dwarfism and a marked disorganization of chondro-osseous calcification.[orpha.net]
  • […] type Classification (Orphanet): - Inborn errors of metabolism - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological[csbg.cnb.csic.es]
  • Epidemiology The epidemiologic features of refractory cytopenia with unilineage dysplasia (RCUD) are similar to those of most types of myelodysplastic syndrome (MDS). The average age of patients at presentation is approximately 65-70 years.[emedicine.medscape.com]
  • The great debate"Smoking, lung cancer, and cancer epidemiology// Can. Bull. Med. Hist. 2003. - 20(2). - P. 367-386. 86. I-Iirsch F.R., Prindiville S.A., Miller Y.E. et al.[dissercat.com]
Sex distribution
Age distribution

Pathophysiology

  • EuroGrow The Pathophysiology of the Cartilage Growth Plate - EuroGrow - project aims to determine the molecular, cell and extracellular matrix pathology of a number of distinct chondrodysplasia phenotypes, which result from mutations in a variety of different[esdn.org]
  • Physiology and pathophysiology of the growth plate. Birth Defects Res C Embryo Today 2003; 69 : 123–143. 5. Ballock RT, O'Keefe RJ. The biology of the growth plate. J Bone Joint Surg Am 2003; 85 : 715–726. 6.[nature.com]

Prevention

  • Phenylketonuria (PKU) was then shown to be a treatable genetic disease in which early diagnosis and effective treatment prevented the disease (mental retardation) in PKU.[books.google.de]
  • To have strong bones when you are young, and to prevent bone loss when you are older, you need to get enough calcium, vitamin D, and exercise. You should also avoid smoking and drinking too much alcohol. Bone diseases can make bones easy to break.[medlineplus.gov]
  • Depression, Dermatology, Developmental delay, Down syndrome, Eczema, Foster care, Gastrointestinal diseases, Language delay, Learning disorders, Newborn care, Newborns/infants, Nutrition counseling, Obesity, Parenting issues, Pediatric nutrition counseling, Preventive[sutterhealth.org]
  • E-mail: [email protected] Northern California Skeletal Dysplasia Clinic Location: Oakland, California The Northern California Skeletal Dysplasia Clinic provides a forum for diagnosis, prevention, and the treatment of skeletal dysplasias throughout the[lpamrs.memberclicks.net]
  • A single point mutation prevents proteolytic cleavage of the lamin A precursor and confers membrane binding properties . J. Cell Sci. 107 , 1019–1029 (1994) 24. Otwinowski, Z. & Minor, W.[nature.com]

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