title: Thanatophoric dysplasia type 1 with cloverleaf skull in a dichorionic twin.
abstract: Here is reported for the first time, a case of thanatophoric dysplasia type 1 with cloverleaf skull in a (Mexican) dichorionic female twin. The patient's main clinical and radiographic findings included severe limb shortening, narrow thorax shape; short ribs, marked platyspondyly, curved short femurs, and a cloverleaf skull. The female twin sib had normal growth parameters and phenotypic appearance. According to the literature, cloverleaf skull in thanatophoric dysplasia type 1 is rare, even more so in dichorionic twins. Moreover, the present observation confirms that thanatophoric dysplasia type 1 patients may show phenotypic heterogeneity related to cloverleaf skull and other congenital anomalies. Therefore, a careful family history along with clinical, radiological, and molecular investigations is suggested, in order to achieve an accurate parental counseling for thanatophoric dysplasia.
authors.forename: V M
authors.initials: VM
authors.lastname: Salinas-Torres
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D003398:Craniosynostoses / Q000473:pathology*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000473:pathology*; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000172:deficiency*; D013796:Thanatophoric Dysplasia / Q000473:pathology*; D014427:Twins
chemical_list: D051498:Receptor, Fibroblast Growth Factor, Type 3