Primordial dwarfism (PD) refers to a group of monogenic genetic disorders characterized by intrauterine growth restriction (IUGR) and severe, persistent postnatal growth retardation. These diseases have been associated with variants of multiple genes whose products are mainly involved in critical cellular biological processes such as maintenance of genomic stability, DNA damage repair, mRNA splicing regulation, and centrosome function. Variants of such genes can directly impair cell proliferation and developmental potential. With the widespread application of molecular genetic technologies such as high-throughput sequencing, significant progress has been made in the research of PD. This article focuses on the major subtypes of PD, including Seckel syndrome, Microcephalic osteodysplastic primordial dwarfism (MOPD) types I/III, MOPD type II, and Meier-Gorlin syndrome. It has systematically summarized the advances in their clinical phenotypic characteristics, pathogenic genes, and molecular mechanisms, with an aim to deepen the understanding of the essence of growth disorders associated with PD.
Humans ; Dwarfism/genetics* ; Microcephaly/genetics* ; Phenotype ; Fetal Growth Retardation/genetics* ; Osteochondrodysplasias/genetics* ; Growth Disorders ; Micrognathism ; Patella/abnormalities* ; Congenital Microtia

OBJECTIVE: To explore the clinical characteristics and genetic mutation in a family affected with Seckel syndrome. METHODS: Clinical data of the proband and his family members were collected. Potential mutations were detected by high-throughput sequencing and Sanger sequencing. RESULTS: The proband, a 7-year-and-3-month-old boy, has featured proportioned dwarfism, microcephaly, "bird head" appearance (narrow and backward forehead, prominent and protruded eyes, beak-shaped nose and microretrognathia), high-arched palate, enamel dysplasia, hypodontia, and mental retardation. His parents and two sisters were all phenotypically normal. The proband was found to harbor compound heterozygous c.1535T>A (p.L512X) and c.3346-5T>C (splicing) mutations of the CEP152 gene, which were respectively inherited from his mother and father. CONCLUSION The clinical features and genetic mutation of a case with Seckel syndrome were delineated. The newly discovered mutations have expanded the spectrum of CEP152 gene mutations.
Child ; Dwarfism ; Humans ; Intellectual Disability ; Male ; Microcephaly ; Micrognathism ; Mutation

Objective To investigate the fetal ultrasonographic features in pregnancies with Toxoplasma (TOX), rubella virus (RV), cytomegalovirus (CMV) and herpes simplex virus (HSV) infection. Methods From January 2011 to March 2013, prenatal ultrasound examination was performed in 545 fetuses with mothers of speciifc positive IgM of TOX, RV, CMV and HSV, detected by enzyme-linked immune sorbent assay (ELISA) in Nanjing Medical University Affiliated Suzhou Hospital. Ultrasonographic features were summarized and pregnancy outcome was followed up in fetuses with abnormal ifndings. Results Among the 545 fetuses, 56 cases with abnormal sonographic ifndings:6 cases with central nervous systerm abnormalities (2 intracranial calcifications, 4 hydrocephaly);9 cases with digestive system abnormalities (1 intrahepatic calcifications, 8 echogenic bowel);2 cases with heart abnormalities (1 interventricular septal defect, 1 right heart enlargement);17 cases with abnormal amniotic fluid volume (16 polyhydramnios, 1 oligohydramnios);3 cases with placental abnormality (1 thick placenta, 2 placenta abnormal calciifcation);13 cases with urinary systerm abmormality appearing as renal sinus separation;and 6 cases with other systerm abnormalities (1 neck lymphatic hygroma, 1 single umbilical artery, 1 sacrococygeal teratoma and 3 intrauterine growth restriction);2 cases of complicated abnormalities. Conclusions Prenatal ultrasonography is signiifcant in detecting serious fetal malformations, such as hydrocephaly, heart abnormalities and characteristic ultrasound features such as intracranial calciifcations, echogenic bowel, placenta abnormal calciifcation complicated with TOX, RV, CMV and HSV infection, providing valuable information for further clinical treatment, such as induced labour.