-
American Journal of Clinical Dermatology Feb 2018
Topics: Actins; Humans; Musculoskeletal Abnormalities; Mutation; Nevus; Phenotype; Poland Syndrome; Skin Neoplasms
PubMed: 29139054
DOI: 10.1007/s40257-017-0330-9 -
The Annals of Thoracic Surgery Oct 2018
Topics: Funnel Chest; Humans; Poland Syndrome
PubMed: 29501655
DOI: 10.1016/j.athoracsur.2018.02.005 -
Clinical Pediatrics Feb 1991
Topics: Humans; Poland Syndrome
PubMed: 2007306
DOI: No ID Found -
Clinical Pediatrics Oct 1990
Topics: Female; Humans; Infant, Newborn; Poland Syndrome
PubMed: 2253437
DOI: 10.1177/000992289002901013 -
Journal of Medical Case Reports Oct 2018Poland syndrome is a congenital malformation characterized by ipsilateral hand and chest wall depression, including an absence or hypoplasia of the breast and pectoral...
BACKGROUND
Poland syndrome is a congenital malformation characterized by ipsilateral hand and chest wall depression, including an absence or hypoplasia of the breast and pectoral muscles. These hypoplastic defects are reportedly caused by a subclavian artery supply disruption sequence.
CASE PRESENTATION
A 45-year-old Japanese woman, an out-patient, underwent an emergency examination for intense left lower abdominal pain. Computed tomography images revealed a hydronephrotic left kidney and dilatation of the left ureter. No ureteral calculus or neoplasm was found. In addition, no abnormalities connected to her left abdominal pain were found. Nephritis was diagnosed based on the results of urine analysis, and a course of antibiotics was administered. Computed tomography images also revealed a history of breast reconstruction with a custom-made silicone implant in her right breast. The present case showed symptoms of Poland syndrome, which were absence of the sternal head of the right pectoralis major and asymmetrical malformation of the chest wall due to hypoplasia of the right rib cage. In addition to typical Poland syndrome symptoms, she had hypoplasia of her right kidney, hypoplasia of the right gluteus minimus muscle, right-sided pelvic hypoplasia, spinal curvature to the right, and a cystic mass in her right ovary.
CONCLUSIONS
In the present case of Poland syndrome, computed tomography images revealed malformation of the chest wall, absence of the pectoral muscle, and hypoplasia of a left kidney. Unilateral visceral hypoplasia is reported to be caused by a subclavian artery supply disruption sequence that occurs around 7 to 8 weeks of gestation. The present case can be considered a rare atypical phenotype of Poland syndrome with possible subclavian artery supply disruption sequence with internal iliac artery supply disruption.
Topics: Abdominal Pain; Female; Glaucoma; Humans; Iliac Artery; Kidney Diseases; Mammaplasty; Middle Aged; Pectoralis Muscles; Poland Syndrome; Rare Diseases; Thoracic Wall; Tomography, X-Ray Computed
PubMed: 30360754
DOI: 10.1186/s13256-018-1823-8 -
Guy's Hospital Reports 1962
Topics: Hand Deformities; Humans; Pectoralis Muscles; Poland; Poland Syndrome; Syndactyly
PubMed: 14021589
DOI: No ID Found -
Joint Diseases and Related Surgery 2021Radioulnar synostosis is a rare disease which causes supination and pronation restriction as a result of osseous or fibrous connections between the radius and ulna....
Radioulnar synostosis is a rare disease which causes supination and pronation restriction as a result of osseous or fibrous connections between the radius and ulna. Radioulnar synostosis includes both congenital and post-traumatic types. Post-traumatic radioulnar synostosis can be seen in the proximal, middle, and distal part of the forearm, depending on the location of the trauma. Congenital proximal radioulnar synostosis occurs as a result of a separation defect between the radius and ulna in the embryonic period. In the presence of congenital proximal radioulnar synostosis, the patient should be evaluated for accompanying syndromes and possible developmental anomalies. In this report, we present a rare case of both proximal and distal radioulnar synostosis. Hypoplasia of the right pectoral muscle mass, hypoplastic appearance of the right nipple, presence of proximal and distal radioulnar synostosis in the right forearm, and accompanying symbrachydactyly suggested Poland syndrome. To the best of our knowledge this is the first case of congenital proximal and distal radioulnar synostosis with Poland syndrome.
Topics: Humans; Poland Syndrome; Radius; Synostosis; Ulna
PubMed: 34842120
DOI: 10.52312/jdrs.2021.100 -
Neuropediatrics Oct 2020Poland's syndrome (PS; OMIM 173800) is a rare congenital syndrome which consists of absence or hypoplasia of the pectoralis muscle. Other features can be variably...
Poland's syndrome (PS; OMIM 173800) is a rare congenital syndrome which consists of absence or hypoplasia of the pectoralis muscle. Other features can be variably associated, including rib defects. On the affected side other features (such as of breast and nipple anomalies, lack of subcutaneous tissue and skin annexes, hand anomalies, visceral, and vertebral malformation) have been variably documented. To date, association of PS with central nervous system malformation has been rarely reported remaining poorly understood and characterized. We report a left-sided PS patient carrying a de novo 1.5 Mb Xp22.31 duplication diagnosed in addiction to strabismus, optic nerves and chiasm hypoplasia, corpus callosum abnormalities, ectopic neurohypophysis, pyelic ectasia, and neurodevelopmental delay. Since, to our knowledge, this features' association has not been previously reported, we argue that this case may contribute to further widening of the variability of PS phenotype.
Topics: Chromosome Duplication; Chromosomes, Human, X; Humans; Nervous System Malformations; Poland Syndrome
PubMed: 32016944
DOI: 10.1055/s-0039-3402009 -
Pulmonology 2018
Topics: Humans; Male; Pneumothorax; Poland Syndrome; Young Adult
PubMed: 30292324
DOI: 10.1016/j.pulmoe.2018.07.005 -
Medical and Pediatric Oncology 1988We report a patient with Poland's syndrome who developed acute lymphoblastic leukemia (ALL) at 28 years of age. This is the first time that such an association has been... (Review)
Review
We report a patient with Poland's syndrome who developed acute lymphoblastic leukemia (ALL) at 28 years of age. This is the first time that such an association has been reported from outside the United States or in an adult. The relevant literature is reviewed.
Topics: Adult; Humans; Leukemia, Lymphoid; Male; Poland Syndrome; Syndactyly
PubMed: 2843736
DOI: 10.1002/mpo.2950160415