A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type

@article{Langer2004ASA,
  title={A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type},
  author={Leonard O. Jr. Langer and Jaroslav {\vC}ervenka and Mauricio Camargo},
  journal={Human Genetics},
  year={2004},
  volume={81},
  pages={323-328}
}
SummaryTwo siblings with a short-limb dwarfing condition which we call acromesomelic dysplasia, Hunter-Thompson type are reported. Abnormalities are limited to the limbs and limb joints in this severe form of dwarfism. The middle and distal segments of the limbs are most affected. The lower limbs are more affected than the upper. We are aware of one previously published case of this entity reported by A. G. W. Hunter and M. W. Thompson in 1976. Dislocations of the elbows and ankles were present… 
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29 Citations

Clinical and molecular analysis of Grebe acromesomelic dysplasia in an Omani family
TLDR
Transition A1137G and deletion delG1144 mutations in the gene encoding the cartilage‐derived morphogenetic protein‐1 (CDMP‐1) were identified in this family and the affected siblings were homozygous for the delG 1144 mutation while parents were heterozygous.
Grebe Dysplasia; Hunter–Thompson Dysplasia; Du Pan Dysplasia; Chondrodysplasia, Acromesomelic, BMPR1B Type
Acromesomelic chondrodysplasias of the Grebe type, Hunter–Thompson type, Du Pan type, and BMPR1B type are a group of conditions predominantly affecting the limbs with increasing severity in a…
Molecular Genetics of Isolated Acromesomelic Dysplasia
TLDR
Three genes (GDF5, NPR2 and BMPR1B) have been reported to cause different forms of acromesomelic dysplasia, a type of skeletal malformation affecting distal and middle segments of the extremities that shows association with respiratory, cardiac, neurological and genital abnormalities.
A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies
TLDR
The patient’s skeletal phenotype shows an overlap with the clinical spectrum of the acromesomelic chondrodysplasias of the Grebe, Hunter-Thompson, and DuPan types caused by homozygous mutations in the gene coding for growth differentiation factor 5 (GDF5) which is a high-affinity ligand to BMPR1B.
Neonatal Death Dwarfism in a Girl with Distinctive Bone Dysplasia Compatible with Grebe Chondrodysplasia: Analysis by CT Scan-based Phenotype
TLDR
This is the first report of neonatal death dwarfism of Grebe syndrome analyzed by CT scan-based phenotype and parents being first cousins (consanguineous marriage) strongly suggests autosomal recessive pattern of inheritance.
Prenatal Sonographic Diagnosis of Grebe Syndrome
  • D. Cordero, Y. Goldberg, S. Gross
  • Medicine
    Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine
  • 2006
TLDR
The prenatal diagnosis of Grebe syndrome is reported based on targeted second-trimester sonography and is characterized by severe acromesomelic dysplasia and dysmorphic distal appendages in the context of normal development of the craniofacial and axial skeleton.
Mutation in the cartilage‐derived morphogenetic protein‐1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome)
TLDR
Genomic DNA from the family with DuPan syndrome was examined for mutations in the CDMP1 gene and a missense mutation, T1322C, in the coding region of the CD MP1 gene was found, likely to cause a conformational change in theCDMP1 protein that influences the expression of genes which are required for normal bone development.
Acromesomelic Dysplasia with Interstitial Lung Disease: A Unique Association
TLDR
A case of acromesomelic dysplasia associated with interstitial lung disease (ILD) is reported, based on radiographs of whole skeleton, which is characterized by a constellation of skeletal anomalies.
Homozygous Sequence Variants in the NPR2 Gene Underlying Acromesomelic Dysplasia Maroteaux Type (AMDM) in Consanguineous Families
TLDR
Three consanguineous families (A, B, C) segregating AMDM in an autosomal recessive manner are investigated, revealing two novel missense variants in two families and a previously reported splice site variant in the third family.
Limb Malformations
About Limb Malformations Limb malformations are present in isolated limb reduction defects and split hand/foot anomalies as well as some syndromic forms, such as the Cornelia de Lange syndrome caused…
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