Less than 100 cases of primordial dwarfism have been reported worldwide out of which Microcephalic osteodysplastic primordial dwarfism type I comprise about <30 cases. We report a rare case of extreme growth failure in a neonate with primordial dwarfism of antenatal onset due to Microcephalic osteodysplastic primordial dwarfism type I. Our case is also unique in being associated with hitertho unreported association of subpulmonic ventricular septal defect and a dorsal interhemispheric cyst in the brain.
机构:
Nemours Childrens Hlth, Div Allergy Immunol, Wilmington, DE 19803 USA
Thomas Jefferson Univ, Sidney Kimmel Med Coll, Dept Pediat, Philadelphia, PA 19144 USANemours Childrens Hlth, Div Allergy Immunol, Wilmington, DE 19803 USA
Sirohi, Neha
Duker, Angela L.
论文数: 0引用数: 0
h-index: 0
机构:
Nemours Childrens Hlth, Div Med Genet, Wilmington, DE USANemours Childrens Hlth, Div Allergy Immunol, Wilmington, DE 19803 USA
Duker, Angela L.
Bober, Michael B.
论文数: 0引用数: 0
h-index: 0
机构:
Thomas Jefferson Univ, Sidney Kimmel Med Coll, Dept Pediat, Philadelphia, PA 19144 USA
Nemours Childrens Hlth, Div Med Genet, Wilmington, DE USANemours Childrens Hlth, Div Allergy Immunol, Wilmington, DE 19803 USA
Bober, Michael B.
DeFelice, Magee L.
论文数: 0引用数: 0
h-index: 0
机构:
Nemours Childrens Hlth, Div Allergy Immunol, Wilmington, DE 19803 USA
Thomas Jefferson Univ, Sidney Kimmel Med Coll, Dept Pediat, Philadelphia, PA 19144 USANemours Childrens Hlth, Div Allergy Immunol, Wilmington, DE 19803 USA
机构:
Natl Res Ctr, Dept Clin Genet, Human Genet & Genome Res Div, Cairo, EgyptNatl Res Ctr, Dept Clin Genet, Human Genet & Genome Res Div, Cairo, Egypt
Abdel-Salam, Ghada M. H.
Abdel-Hamid, Mohamed S.
论文数: 0引用数: 0
h-index: 0
机构:
Natl Res Ctr, Human Genet & Genome Res Div, Med Mol Genet Dept, Cairo, EgyptNatl Res Ctr, Dept Clin Genet, Human Genet & Genome Res Div, Cairo, Egypt
Abdel-Hamid, Mohamed S.
Issa, Mahmoud
论文数: 0引用数: 0
h-index: 0
机构:
Natl Res Ctr, Dept Clin Genet, Human Genet & Genome Res Div, Cairo, EgyptNatl Res Ctr, Dept Clin Genet, Human Genet & Genome Res Div, Cairo, Egypt
Issa, Mahmoud
Magdy, Ahmed
论文数: 0引用数: 0
h-index: 0
机构:
Natl Res Ctr, Human Genet & Genome Res Div, Orodental Genet Dept, Cairo, EgyptNatl Res Ctr, Dept Clin Genet, Human Genet & Genome Res Div, Cairo, Egypt
Magdy, Ahmed
El-Kotoury, Ahmed
论文数: 0引用数: 0
h-index: 0
机构:
Natl Res Ctr, Dept Clin Genet, Human Genet & Genome Res Div, Cairo, EgyptNatl Res Ctr, Dept Clin Genet, Human Genet & Genome Res Div, Cairo, Egypt
El-Kotoury, Ahmed
Amr, Khalda
论文数: 0引用数: 0
h-index: 0
机构:
Natl Res Ctr, Human Genet & Genome Res Div, Med Mol Genet Dept, Cairo, EgyptNatl Res Ctr, Dept Clin Genet, Human Genet & Genome Res Div, Cairo, Egypt