Congenital anomalies associated with hypospadias

We did a retrospective survey on 200 patients with hypospadias to determine what other congenital anomalies were present. The 56 patients with associated anomalies included 16 who had abnormal excretory urograms and 10 of these 16 patients had defects requiring surgical correction.     

Congenital contracture of the superficial flexor of the hand

Interleukin-12 (IL-12) is a key immunoregulatory cytokine which promotes the development of Thl-dependent, cell-mediated immune responses. Acute allograft rejection after organ transplantation and acute graft-versus-host disease (GVHD) after bone-marrow transplantation are generally attributed to cell-mediated immune mechanisms and, therefore, potentially susceptible to immunological intervention at the level of IL-12. Recent data from murine models of transplantation have highlighted the potential of IL-12 as a selective target for immunotherapy. Neutralising endogenous IL-12 for a brief period at the time of transplant promotes long-term deviation from a Th1 to a polarised Th2 alloimmune response. This confers lasting protection from GVHD but is less effective at preventing acute rejection, possibly because Th2-dependent immune responses are also capable of effecting graft rejection.     

Congenital hypoplasia of the extensor tendons of the hand

An 18-year-old woman with congenital flexion contractures of the ulnar three digits bilaterally is presented. She had a three-generation family history of this disorder with autosomal dominant inheritance. Magnetic resonance imaging scan of the wrist and forearm was used to demonstrate a hypoplasia of the digital extensor muscles and tendons.     

Congenital anomalies and vascular birthmarks of the lower extremities

MR imaging is an invaluable tool for the evaluation of congenital abnormalities and vascular birthmarks of the extremities in children. These abnormalities of the immature musculoskeletal system are often underestimated by radiography. MR imaging is useful for diagnosis, assisting in therapy, showing response to treatment, and determining prognosis. Localized and generalized abnormalities of the lower extremities and issues pertinent to their MR imaging are illustrated in this article.     

Congenital anomalies of the central nervous system 1990-1993

We have analyzed all available data including birth certificates, maternity records, pediatric records, and pathology reports of spontaneous and induced abortions and newborn deaths to determine the frequency of congenital anomalies of the central nervous system. We found 76 infants (34 males, 39 females and 3 of undetermined sex) with CNS anomalies during the 1990-93 period. In the same period there were 23,425 births. The frequency of CNS anomalies in this period was 32,4/10,000 births. These results are at variance with conclusions of previously published and incomprehensive studies in Croatia. Therefore, a systematic follow-up of the autopsy findings of induced and spontaneous abortions and newborn deaths in the epidemiology of CNS anomalies is clearly needed.     

The position of symbrachydactyly in the classification of congenital hand anomalies

The clinical features of 53 cases of intercalated hypoplasia and 113 cases of distal aplasia are reviewed and compared with each other and with 129 cases of syndactyly. Tri-, di- and mono-phalangeal symbrachydactyly, and adactyly with nubbin digits are consecutive anomalies. Transverse deficiency may result if the mesenchyme is damaged severely, and if damage is mild and formation has continued, intercalated transverse deficiency may occur. Webbing in symbrachydactyly may result from failure of the apical ectodermal ridge under the influence of damaged mesenchyme.     

Congenital eyelid ptosis and dental anomalies in the Francheschetti syndrome

The observation of an 11-years-old child is presented. He had bilateral congenital palpebral ptosis and multiple facial malformations, like maxillary and mandibular hypoplasia, dental malpositions, ogival palace, anomalies of the external ear, lesions determined by a latero-facial dechyscence (perforation 6, 7, 8). The affection was produced by a embryogenesis disturbance following the existence of two pathological genes. Their actions were overlapped during the 7--8 and 11 weeks of embryonic life, which caused damages in the maxillary and mandibular bones suture, which allow the formation of the inferior and middle stage of the face.     

Craniosynostosis with Marfan syndrome, hand and foot anomalies

We report a patient with various connective tissue abnormalities suggesting a distinctive connective tissue disorder combining some features of the Marfan syndrome with craniosynostosis and hand and feet anomalies.     

Congenital anomalies of the diaphragm. Personal experience with thirty-five consecutive cases

A personal experience of thirty-five consecutive patients with congenital anomalies of the diaphragm is reported. The anomalies included twenty-five Bochdalek hernias, seven diaphragmatic eventrations, and three esophageal hiatal hernias. Except for the patients with esophageal hiatal hernias, virtually all patients presented with respiratory embarrassment, twenty-seven of the thirty-five within 24 hours of birth. An especially high mortality is associated with this early onset of symptoms. The treatment was surgical with a thoracic approach used for right Bochdalek defects and eventrations, and an abdominal approach used for left Bochdalek hernias. The importance of proper preoperative and postoperative management in a well equipped neonatal intensive care unit is emphasized.     

Congenital anomalies of the mitral valve in the adult: presentation of 3 cases

Congenital mitral valve anomalies are uncommon and their incidence in adults is very unusual. Transthoracic echocardiography is essential for their diagnosis. In this study two adult patients with parachute mitral valve and one with isolated cleft of mitral valve are described. An echocardiographic exam was decisive in obtaining the diagnosis for each of these patients. Clinical aspects, typical echocardiographic findings and therapeutical approaches of these entities are discussed.     

Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. I: Syndromes with multiple congenital anomalies

In contrast to large-diameter vascular grafts (i.e. larger than 5 mm) which remain excellent for more than 10 years after implantation, small-diameter vascular grafts of both Dacron and Teflon occlude rapidly upon implantation. In this overview article, the strategies used to improve the patency of these small-diameter grafts, the current status in clinical trials, and further perspectives in the field of artificial vascular graft development are reviewed. It is concluded that, in view of recent developments in tissue engineering approaches, the future of small-diameter vascular prostheses looks promising.