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Background: Poland syndrome (PS) is a rare congenital anomaly characterized by a variable clinical picture. Classic deformity consists of the unilateral hypoplasia or aplasia of the pectoralis major muscle and ipsilateral hand malformations. The aim of this study is to present disturbances in the development of upper limb in women with Poland syndrome (including digit ratio 2D:4D) in comparison to the healthy controls. Methods: The group of patients with Poland syndrome consisted of 36 women, while the control group consisted of 50 heathy women. Both upper limbs were measured anthropometrically. The length of all fingers and forearms were measured, and the digit ratio was calculated. Results: In women with Poland syndrome, the length of digits 2 and 4 and the forearm were significantly higher on the nonaffected side than on the affected side. In addition, there were significant differences between the length of digits 2 and 4 and the forearm between patients and controls. Conclusions: In patients with Poland syndrome, the upper limb at the affected side is significantly different from the upper limb on the healthy side, mainly in the length of the forearm and digits. While examining the patient with Poland syndrome, we think it is essential to pay attention not only to hand anomalies but also to the development of whole upper limb. It may prove to be helpful in estimating the complete picture of Poland syndrome. Full article

Idiopathic superior oblique muscle palsy is a major type of paralytic, non-comitant strabismus and presents vertical and cyclo-torsional deviation of one eye against the other eye, with a large vertical fusion range and abnormal head posture such as head tilt. Genetic background is considered to play a role in its development, as patients with idiopathic superior oblique muscle palsy have varying degrees of muscle hypoplasia and, rarely, the complete absence of the muscle, that is, aplasia. In this study, whole genome sequencing was performed, and single nucleotide variations and short insertions/deletions (SNVs/InDels) were annotated in two patients each in three small families (six patients in total) with idiopathic superior oblique muscle palsy, in addition to three normal individuals in one family. At first, linkage analysis was carried out in the three families and SNVs/InDels in chromosomal loci with negative LOD scores were excluded. Next, SNVs/InDels shared by the six patients, but not by the three normal individuals, were chosen. SNVs/InDels were further narrowed down by choosing low-frequency (<1%) or non-registered SNVs/InDels in four databases for the Japanese population, and then by choosing SNVs/InDels with functional influence, leading to one candidate gene, SSTR5-AS1 in chromosome 16. The six patients were heterozygous for 13-nucleotide deletion in SSTR5-AS1, except for one homozygous patient, while the three normal individuals were wild type. Targeted polymerase chain reaction (PCR) and direct sequencing of PCR products confirmed the 13-nucleotide deletion in SSTR5-AS1. In the face of newly-registered SSTR5-AS1 13-nucleotide deletion at a higher frequency in a latest released database for the Japanese population, the skipping of low-frequency and non-registration sorting still resulted in only 13 candidate genes including SSTR5-AS1 as common variants. The skipping of linkage analysis also led to the same set of 13 candidate genes. Different testing strategies that consisted of linkage analysis and simple unintentional bioinformatics could reach candidate genes in three small families with idiopathic superior oblique muscle palsy. Full article