The tricho-rhino-phalangeal syndrome (TRPS) type I is a rare genetic disorder related to the TRPS1 gene mutation in chromosome 8, characterized by craniofacial abnormalities and disturbances in formation and maturation of bone matrix. The hallmarks are sparse and brittle hair, tendency to premature baldness, bulbous nose called pear-shaped, long and flat filter and low ear implantation. The mos...

A moderately retarded girl had a 47,XX,+der(18),t(9;18)(p24;q21)mat abnormality that was inherited from her mother, who had a 46,XX,t(9;18)(p24;q21) karyotype in most cells, and a minor cell line of 47,XX,+der(18),-t(9;18)(p24;q21). Her dysmorphic features--bilateral epicanthic folds, low-set, abnormal ears, low posterior hairline, clinodactyly of the 5th fingers, and broad great toes--were sim...

Introduction  Pentasomy 49,XXXXY is a sex chromosome anomaly difficult to be diagnosed prenatally. We describe a patient of pentasomy 49,XXXXY with false low-risk results using a noninvasive prenatal screening (NIPS). A 30-year-old G1P0 woman presented at 33 6/7 weeks, secondary to sonographic fetal anomalies. She had low-risk NIPS at 13 6/7 weeks. Anatomy survey showed bilateral clubfeet, clin...

A 38-year-old man was diagnosed, at the age of 18, with SCN4A-negative hyperkalaemic periodic paralysis. The diagnosis remained unchanged until his 8-year-old daughter suffered an exercise-induced syncope. Her EKG showed a polymorphic ventricular tachycardia. Patient’s hands and feet, previously overlooked, became “neurologically” relevant since they were characteristic of Andersen-Tawil syndro...

OBJECTIVE To establish the frequency of 82 morphological features in a sample of Brazilian children (between 3 and 13 years old), to understand the influence of age, gender, and ethnicity. METHODS This was a cross-sectional study that evaluated 239 children with typical development (between 3 and 13 years old) regarding the presence of 82 morphological characteristics. A previously described ...

Background Metacarpal 4-5 fusion (MF4) is a rare congenital hand malformation characterised primarily by ulnar deviation of the fifth finger, clinodactyly, shortening of the fifth metacarpal and reduced mobility of the fifth finger. A small number of familial cases have been described in the literature, consistent with X-linked recessive inheritance. In May 2013 causative mutations in the FGF16...

We report the case of a 15-year-old male patient with microcephaly, dilated cardiomyopathy, mental retardation, secondary hypopituitarism, and minor dysmorphic features: downward- slanting palpebral fissures, narrow palate, small and low-set ears, fifth finger clinodactyly, sandal gaps on both feet, and anal stenosis. He was admitted to the pediatric intensive care unit with signs of progressiv...