background: progeria syndrome is a very rare genetic disorder with an incidence of 1 in 8 million live births that is probably due to autosomal dominant mutation. clinical presentations show features of premature aging, growth failure, characteristic face, alopecia, loss of subcutaneous fat and stiffness of a joint that all become apparent during the 2nd year of life. the aim of this case repor...

Congenitally missing of maxillary lateral incisors is one of the most common patterns of hypodontia. This paper presents a nine year old boy with congenital missing of lateral incisors. Familial history showed that, his mother, aunts, uncle and grandmother have also congenital absence of lateral incisors.

Hemimelia as a congenital anomaly is a failure of development of extremities formation in embryonic period. This anomaly is defined as complete absence of the part of extremities and different forms were explained for hemimelia. Adactyly is an alternative name for transverse hemimelia and is a rare disorder in the most of animal species. A two months old male lamb with normal vital signs was re...

We are reporting an infant with persistent abnormal liver function, neonatal jaundice, and intermittent hypoglycemia. Evaluation confirmed congenital hypopituitarism, in the absence of congenital anomalies and midline defect. His jaundice and abnormal liver function improved after treatment with Levothyroxine and hydrocortisone.

one of the few conditions associated with skin ulceration in the neonatal period is aplasia cutis congenita (acc). acc or congenital absence of the skin is considered an uncommon anomaly. this malformation commonly appears on the scalp as a solitary lesion, though it can be seen in other surfaces of the body such as the trunk, limbs and face. acc can be associated with other physical anomalies ...

Syrenomelia sequence is a rare (incidence of 1: 60000 births) [1,2] lethal pattern of congenital anomalies characterized by a number of hallmark skeletal anomalies including fusion of the lower extremities or a single lower limb, bilateral renal agenesis or dysgenesis with absent or hypoplastic renal arteries, oligohydramnios and the presence of aberrant vasculature. Prenatal sonographic detect...

Two boys with bilateral agenesis of kidneys and ureters were the product of a consanguineous marriage. This family and previous reports of familial bilateral renal agenesis support the supposition that a minor proportion of cases of BRA is caused by the homozygous state of an autosomal recessive gene.

Bart's syndrome, first described by Bart in 1966, consists of congenital localized absence of skin, congenital epidermolysis bullosa, and associated nail abnormalities. A newborn infant with Bart's syndrome is reported since it is a very rare condition, especially when associated with pyloric and concomitant choanal atresia. To the best of our knowledge, this is the first report presenting a ca...

Aplasia Cutis Conginita (ACC) is a condition characterized by congenital absence of skin, usually on the scalp. ACC can occur as an isolated condition or in the presence of other congenital anomalies. Here we describe a case of a 16 days old baby girl with an isolated ACC of the scalp. Her elder two siblings have been diagnosed with ACC with concomitant cardiac or limb anomalies. The patient wa...