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1.

Greenberg dysplasia

Greenberg dysplasia, also known as hydrops-ectopic calcification-moth-eaten (HEM) skeletal dysplasia, is a rare autosomal recessive osteochondrodysplasia characterized by gross fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers. It is lethal in utero. Patient fibroblasts show increased levels of cholesta-8,14-dien-3-beta-ol, suggesting a defect of sterol metabolism (summary by Konstantinidou et al., 2008). Heterozygous, or rarely homozygous, mutations in the LBR gene can also cause Pelger-Huet anomaly (PHA; 169400). Oosterwijk et al. (2003) identified 11 reported patients with Pelger-Huet anomaly and homozygosity for mutations in the LBR gene and found that none had skeletal dysplasia, early lethality, congenital abnormalities, or skin abnormalities. They suggested that homozygous LBR mutations result in distinct mild (PHA homozygosity) or severe (Greenberg skeletal dysplasia) phenotypes based on allelic heterogeneity. Herman (2003) reviewed the cholesterol biosynthetic pathway and 6 disorders involving enzyme defects in postsqualene cholesterol biosynthesis: Smith-Lemli-Opitz syndrome (SLOS; 270400), desmosterolosis (602398), X-linked dominant chondrodysplasia punctata (CDPX2; 302960), CHILD syndrome (308050), lathosterolosis (607330), and HEM skeletal dysplasia. [from OMIM]

MedGen UID:
418969
Concept ID:
C2931048
Disease or Syndrome
2.

Pelger-Huët anomaly

An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear. [from NCI]

MedGen UID:
10617
Concept ID:
C0030779
Disease or Syndrome

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