Poland's syndrome in a sterile woman]

In a woman aged 32, who came for consultation regarding her sterility, a case of Poland's syndrome was diagnosed in view of a brachysyndactylia and a homolateral agenesia of the large pectoral. The possible connexion between her sterility and this syndrome is discussed.     

Musculocutaneous flap reconstruction of chest-wall defects: an experience with 50 patients

Precepts derived from a review of 50 patients included (1) prior radiation of the vessel supplying the flap does not appear to have any effect on viability; (2) in an open, infected wound, use of synthetic materials adds significantly to the risk of infection and, in fact, appears to be unnecessary; (3) in full-thickness chest-wall defects, reconstruction can be accomplished in almost all cases by inset of the flap only, without need of support of fascia, ribs, or prosthetic material; and (4) in locally recurrent breast cancer, chest-wall resection is an adjunct to chemotherapy. A schematic outlining potential defects and appropriate musculocutaneous reconstruction is also presented.     

Poland's syndrome: correction of thoracic anomaly through minimal incisions

A method that minimizes residual scarring following Poland's syndrome correction by latissimus dorsi muscle transposition and placement of a submuscular breast implant is described. In order to reduce any resulting unsightly scarring and, in particular, eliminate the anterior thoracic scar, both a dorsal S-shape and an axillary incision were made and the muscle flap was raised. A prosthesis was then inserted and the muscle flap sutured to the anterior chest wall through an anterior incision symmetrical to the inferior border of the contralateral areola. The latter is a previously undescribed approach that produces good cosmetic results.     

Turner's syndrome in the male with chromosomal mosaicism

A chromosomal mosaic XO/XY (+estra chromosome) with unequal distribution of the cells lines in blood cells and in fibroblasts is described in a boy with typical traits of Turner's syndrome.     

Escobar syndrome in three male patients of same family

We describe three male individuals from a consanguineous south Indian family affected with the multiple pterygium syndrome (Escobar syndrome). Common clinical features included short stature, multiple pterygium, skeletal anomalies, and normal intelligence. The first report of this condition was made in 1902 from this same place (Pondicherry) and the disease received its present popular name Escobar syndrome in 1982. The genetic defect for this condition was identified in 2006 as mutation in the fetal acetylcholine receptor.     

Pneumothorax after a clinical breast fine-needle aspiration of a lump in a patient with Poland's syndrome

We report the first case in the medical literature of a pneumothorax complicating fine needle aspiration cytology (FNAC) of a breast lump in a woman with a mild form of Poland's syndrome. The pneumothorax was treated conservatively. This is the first case of breast FNA-related pneumothorax seen in our clinical practice. We believe that the absence of pectoral muscles has increased the risk of this complication. We have also diagnosed an incidental screen-detected breast cancer affecting the ipsilateral breast in the same patient. We conclude that caution should be exercised when performing FNAC of breast lesions in patients with Poland's syndrome. The procedure should be preferably performed under image guidance in such patients in order to minimise the risk of this complication.     

Cephalometric assessment of craniofacial morphology in Japanese male patients with obstructive sleep apnea-hypopnea syndrome

Sleep and Biological Rhythms - Craniofacial morphological anomalies can be divided into two principal categories: skeletal anomalies and soft tissue anomalies. This study examined the hypothesis...     

Meiosis in a male with Down's syndrome

Summary The chromosomes in mitotic and meiotic phases were investigated in a male Down's syndrome case, aged 45. Information was obtained that based on blood and tunica vaginalis cultures, the somatic chromosome complement was found to possess 47 chromosomes with the standard 21-trisomy, and further that the majority of cells from biopsied testicular specimens examined showed the chromosome number 47 in spermatogonia, and 22 autosomal elements consisting of 21 bivalents and a trivalent, together with an X-Y bivalent in the first spermatocytes. The seminiferous tubules contained no mature spermatozoa.Contribution No. 688 from the Zoological Institute, Faculty of Science, Hokkaido University, Sapporo. This paper is dedicated to Professor Sajiro Makino, Zoological Institute, Hokkaido University, Sapporo, in honor of his sixtieth birthday, June 21, 1966.     

Madelung deformity as a pathognomonic feature of the onycho-osteodysplasia syndrome.

On the occasion of the observation of the Onycho-osteo-dysplasia syndrome (HOOD syndrome--Nail-Patella syndrome) in a 4-generation family we were impressed by the presence of a Madelung deformity in the four examined family members. A critical review of the literature showed that a true Madelung deformity was present in a great number of previously reported patients but that no specific attention was given to this apparently important symptom.     

McCune-Albright syndrome with male premature pubarche of unusual origin

Premature pubarche in boys is a rare manifestation of McCune-Albright syndrome (MAS). In all cases published so far, it has always been attributed to an excessive testosterone production in the testicles. For the first time we describe a boy with MAS and evidence of premature pubarche of extragonadal origin. Apart from fibrous dysplasia of the forehead and a growth hormone- and prolactin-producing pituitary adenoma, the boy presented with premature pubarche at the age of 6 years and 11 months. The size of his testicles was only 2 ml at that time and remained thus despite a progression of his pubic hair to Tanner stage IV at the age of 10 years. In the basal blood analysis testosterone was not significantly elevated. However, androstenedione and DHEAS were elevated in the serum, and in repetitive 24-hour urine samples DHEAS metabolites were markedly elevated. We therefore concluded that the patient's premature pubarche might have originated in an increased production of DHEAS. This increased production might be due to an activating mutation of a hormone receptor in the zona reticularis of his adrenal glands leading to an increase in sulfotransferase activity and excessive DHEAS production.     

A radical method of correcting the nasal deformity in adult patients with repaired unilateral lip clefts

A method of rhinoseptoplasty is described, which combines principles of several well-known procedures, with innovations introduced by the author, for the purpose of eliminating the causes of complex distortions of the lip, maxilla, and nose in unilateral clefts. This method aims at creating a secure support for the atrophic alar cartilage with a pedicled cartilage flap taken from the normal alar cartilage. Elevation of the dome and elongation of the columella on the cleft side are achieved by interdigitating mucocutaneous flaps. To improve symmetry and relieve nasal obstruction, the ala on the normal side is also corrected, as well as the deflected septal cartilage and the anterosuperior margin of the vomer.     

Rehabilitation of the face in patients with Down's syndrome

Fifty patients with Down's syndrome underwent surgery for improvement of the facial stigmata. Partial glossectomy, lateral canthoplasty, and nose, cheek, and chin augmentation were the common procedures. With a follow-up of 18 to 24 months, the results were recorded by a multidisciplinary team with similar judgments on the glossectomy, the most satisfactory procedure, and some discrepancy on the other procedures, canthoplasty, and cheek augmentation. There were no infections or extrusion of prostheses, and a rather high incidence of extrusion of prostheses, and a rather high incidence of bone resorption was noted in the mandibular area. The facial changes were satisfactory in the majority of the cases in both medical and nonmedical evaluation and improved self-confidence, especially in the older patients. The satisfactory results here presented advocate certain procedures for attenuation of the Down's syndrome stigmata and improvement of some functions by diminishing the size of the tongue.     

XXXXY syndrome in a phenotypic male infant with associated cardiac abnormalities

Summary A boy with 49,XXXXY karyotype is described with only mild mental retardation at 18 months. Physical abnormalities included patent ductus arteriosus, undescended testes, small penis, bilateral epicanthal folds, and incurved 5th digits with small middle phalanges. Literature review showed 7 previous cases of XXXXY patients with congenital heart disease. 23% of buccal cells showed 1 sex chromatin body; 26% showed 2 and 11% 3. Autoradiography demonstrated 3 heavily labelled X chromosomes. The heteropyknotic behavior of X Chromosomes in excess of one may provide some measure of protection against excessive numbers of X chromosomes, bence the relatively normal development of some XXXXY patients.This study was supported in part by research grant AM-02504 from the National Institute of Arthritis and Metabolic Diseases U.S. Public Health Service.     

Elevated plantar pressures in neuropathic diabetic patients with claw/hammer toe deformity

Elevated plantar foot pressures during gait in diabetic patients with neuropathy have been suggested to result, among other factors, from the distal displacement of sub-metatarsal head (MTH) fat-pad cushions caused by to claw/hammer toe deformity. The purpose of this study was to quantitatively assess these associations. Thirteen neuropathic diabetic subjects with claw/hammer toe deformity, and 13 age- and gender-matched neuropathic diabetic controls without deformity, were examined. Dynamic barefoot plantar pressures were measured with an EMED pressure platform. Peak pressure and force-time integral for each of 11 foot regions were calculated. Degree of toe deformity and the ratio of sub-MTH to sub-phalangeal fat-pad thickness (indicating fat-pad displacement) were measured from sagittal plane magnetic resonance images of the foot. Peak pressures at the MTHs were significantly higher in the patients with toe deformity (mean 626 (SD 260)kPa) when compared with controls (mean 363 (SD 115) kPa, P<0.005). MTH peak pressure was significantly correlated with degree of toe deformity (r=-0.74) and with fat-pad displacement (r=-0.71) (P<0.001). The ratio of force-time integral in the toes and the MTHs (toe-loading index) was significantly lower in the group with deformity. These results show that claw/hammer toe deformity is associated with a distal-to-proximal transfer of load in the forefoot and elevated plantar pressures at the MTHs in neuropathic diabetic patients. Distal displacement of the plantar fat pad is suggested to be the underlying mechanism in this association. These conditions increase the risk for plantar ulceration in these patients.