this paper presents a 54-year-old female with lupus whom severe anaemia due to pure red cell aplasia (prca) was the first manifestation. there was seven years interval between prca onset and diagnosis of lupus. thymectomy due to thymoma had been carried out six years before but anaemia sustained. hypothyroidism and hypoparathyroidism were other associated diseases. severe anaemia and the need f...

Adams-Oliver syndrome (AOS) is a rare congenital disorder with unknown etiology commonly presented with aplasia cutis and terminal limb defects. Central nervous and cardiopulmonary systems may also be affected. It is commonly inherited as an autosomal dominant disorder but autosomal recessive and sporadic cases have also been reported. Here, we present a 10-year-old boy with extensive aplasia c...

DiGeorge syndrome, also termed 22q11.2 deletion syndrome, represents a spectrum of disorders that include thymic aplasia/hypoplasia, parathyroid aplasia/hypoplasia, conotruncal vascular anomalies, and velocardiofacial (Shprintzen) syndrome. This case report describes a novel constellation of cardiovascular anomalies in a 31-year-old patient with 22q11.2 deletion confirmed by fluorescence in sit...

The MURCS association is a rare, nonrandom association of müllerian duct aplasia, renal aplasia and cervicothoracic somite dysplasia. The etiology is unknown. Although it is usually a sporadic disorder, familial cases with uterovaginal anomalies have been reported. Occasionally, it may be accompanied by abnormalities involving various other organs or systems. Malformations related to the centra...

Introduction. The temporomandibular joint (TMJ) is the most complex elegantly designed joint in the human body. Abnormal development and growth of TMJ may lead to condyle aplasia present in several syndromes expressions, but it is extremely rare when not connected to any underlying pathological disorder or in conjunction with any syndrome. Objective. A rare case of aplasia of the mandibular con...

Williams MS, et al. CHARGE association: An update and review for the primary pediatrician. Clin Pediatr (Phila) 1998;37:159-73. 6. Amiel J, Attiee-Bitach T, Marianowski R. Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome. Am J Med Genet 2001;99:124-7. 7. Al Frayh AR, Haque KN. Anophthalmia, microcephaly, hypotonia, hypogonadism, failure to thrive and developme...

Two cases of aplasia cutis congenita are reported here. One of the cases also had pre- and postaxial polydactyly and other digital anomalies.

Congenital patellar aplasia and hypoplasia are quite rare. Bilateral flexion deformity of the fifth finger, patellar aplasia in the right knee and patellar hypoplasia in the left knee were noted in a 6-year-old boy brought in for treatment of curvature of both little fingers. Active and passive movements of the knees were within normal range, and the quadriceps muscle was of normal strength. Tr...

A 1-day-old boy with the characteristics of Adams-Oliver syndrome was presented. Adams-Oliver syndrome has a wide spectrum of anomalies ranging from aplasia cutis congenita, cutis marmorata telangiectatica congenita and transverse limb defects to lethal anomalies. Our patient had aplasia cutis congenita with scalp, skull and dura defect. He had also a large dura defect with herniation of brain ...

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