Additional features in a new case of a girl presenting brachyphalangy, polydactyly and tibial aplasia/hypoplasia

Abstract

Brachyphalangy, polydactyly and tibial aplasia/hypoplasia is a rare autosomal dominant disorder. The present report represents the ninth reported case and only the second case involving a female. She had a characteristic pattern of limb anomalies including agenesis of the tibiae and bilateral preaxial polydactyly of the feet, associated with genital hypoplasia. In addition our patient had wormian bones, a lacrimal sac fistula, an ectopic kidney and an anteriorly placed anus, which are findings not previously described in this condition.

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases

“…However, the functional impact of the majority of such mutations is unknown, and many complex diseases still lack a clear underlying genetic component 1,[9][10][11][12] . We initially set out to identify the molecular basis of brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (BPTAS; Online Mendelian Inheritance in Man database identifier: 609945), an extremely rare complex malformation syndrome with an as yet unknown molecular aetiology [13][14][15][16][17][18][19] . During the study, five individuals (I1-I5) were diagnosed with BPTAS.…”

Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature

“…Five additional patients (three boys and two girls) with this disorder were reported in the following years [2][3][4][5][6].…”

“…Pierson et al [5] reported a patient who, in addition to the typical features of brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome, also suffered from congenital heart defects (total anomalous pulmonary venous connection and atrial septal defect), horseshoe kidneys, and hypospadias. [2,6], but it is uncertain whether these mild symptoms are coincidental or causally linked to the disorder in their children. The assumption of an autosomal dominant etiology, possibly by de novo mutations, was further supported by the sporadic occurrence in all cases (none had affected siblings) and missing consanguinity of the parents.…”

“…Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945) is a rare disorder with only seven patients reported to date [1][2][3][4][5][6]. The cause of this syndrome is unknown.…”

“…The cause of this syndrome is unknown. Autosomal dominant inheritance with variable expression has been suggested based on the presence of minor features in some parents and the fact that neither consanguinity of the parents nor pairs of affected siblings were reported so far [2,5,6].…”