ABSTRACT
SHORT syndrome is a rare autosomal dominant disorder whose acronym stands for short stature, hyperextensibility of joints and/or hernias, ocular depression, Rieger anomaly, and teething delay. Common clinical features include intrauterine and postnatal growth restriction, lipoatrophy, characteristic facial gestalt, anterior chamber defects and insulin resistance/diabetes. To date, the coexistence of SHORT syndrome and unilateral basal ganglia calcification has not been reported. Here, we describe a 27-year-old woman bom to healthy first-cousin Mexican parents who exhibited the SHORT syndrome phenotype and unilateral basal ganglia calcification. The current observation provides additional knowledge of the spectrum of anomalies that can occur in SHORT syndrome and further illustrates the clinical variability of this disorder. Therefore, basal ganglia calcification and other brain abnormalities should be specifically looked for in all affected patients in order to provide appropriate medical management and genetic counseling.
Subject(s)
Basal Ganglia Diseases/genetics , Calcinosis/genetics , Growth Disorders/genetics , Hypercalcemia/genetics , Metabolic Diseases/genetics , Nephrocalcinosis/genetics , Neurodegenerative Diseases/genetics , Phenotype , Adult , Basal Ganglia/pathology , Basal Ganglia Diseases/diagnosis , Calcinosis/diagnosis , Consanguinity , Craniofacial Abnormalities/genetics , Facies , Female , Growth Disorders/diagnosis , Humans , Hypercalcemia/diagnosis , Metabolic Diseases/diagnosis , Nephrocalcinosis/diagnosis , Neurodegenerative Diseases/diagnosis , PedigreeABSTRACT
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.
Subject(s)
Abnormalities, Multiple/pathology , Craniosynostoses/pathology , Infant, Newborn, Diseases/pathology , Receptor, Fibroblast Growth Factor, Type 3/deficiency , Thanatophoric Dysplasia/pathology , Twins , Fatal Outcome , Female , Humans , Infant, NewbornABSTRACT
We report a Mexican mestizo 2 months old male with Fryns syndrome and vertebral defects. The patient's phenotype included typical craniofacial dysmorphism, short neck, agenesis of the corpus callosum, congenital left diaphragmatic hernia, complex heart disease, C1 to C6 vertebral agenesis with increased interpedicular space, thoracic rotoscoliosis, broad medial ends of the clavicles, brachytelephalangy of hands and feet with fingers axially deviated, and nail hypoplasia. Renal and chromosomal evaluations were normal. Since this is the first description of cervical vertebrae agenesis and thoracic rotoscoliosis in Fryns syndrome, we propose that these clinical and radiological features should be incorporated to the Fryns syndrome phenotype and specifically looked for in other children.