Fatal aplastic anaemia in a child with features of Dubowitz syndrome

We describe a boy with features of Dubowitz syndrome who developed anaemia, thrombocytopenia and granulocytopenia at 3 years of age. The family refused blood component transfusion and he died 6 months later from severe anaemia and pulmonary bleeding. This is the second case of bone marrow aplasia in 38 reported cases of Dubowitz syndrome. It is proposed that patients with Dubowitz syndrome need long-term follow up, including complete blood counts.     

Dubowitz syndrome

Four children including two siblings with Dubowitz syndrome are presented. All four were preterm or small-for-dates. On the basis of their symptoms, it is suggested that infantile eczema is not an essential sign of the disorder, whereas the high frequency of hernia, strabism and upward slant of the palpebral fissures is underestimated in the literature.     

The Dubowitz syndrome

The Dubowitz syndrome is a rare, autosomal, recessively inherited disorder of intrauterine and postnatal growth retardation leading to microcephaly, moderate mental retardation and such characteristic facial anomalies as telecanthus, epicanthic folds, blepharophimosis, ptosis, broadening of the bridge and tip of the nose, abnormal ears and retrogenia. Further findings include hyperactivity, eczema, cryptorchidism in the affected males, and brachy-clinodactyly of the fifth fingers. Thirty-three cases with this syndrome have been reported in the literature. Five additional patients are presented. All five are sporadic cases. The diagnostic symptoms and the differential diagnosis are discussed.     

The Dubowitz syndrome

This paper reports observations on 4 patients with a newly recognized syndrome called the Dubowitz syndrome. Dubowitz provided some follow-up data on the patient he first described in 1965; in addition 3 personally studied patients are presented. To date the known patients have manifested intrauterine growth retardation (with primordial shortness of stature), microcephaly, variable degrees of eczema and mental retardation, and a characteristic facial appearance. It is presumed that the Dubowitz syndrome is recessively inherited.Supported by NIH Grants GM 08217, GM 15422, 5 KO4 HD 18982 (Career Development Award), and by a Grant from the National Foundation-March of Dimes.     

Auxological evaluation of a patient with Dubowitz syndrome]

The Authors describe the growth of a 2 year old child affected by Dubowitz syndrome. The child came to their observation because of short stature and microcephaly.     

Membranous nephropathy presenting with nephrotic syndrome in a child with thalassemia major

Few data on the renal effects of thalassemia syndrome are available in the literature. Recent clinical studies identified proximal tubular damage and glomerular filtration abnormalities in thalassemia. Iron‐chelating agents might be nephrotoxic as well, but proven glomerular injury, either due to anemia or chelating therapy, has not previously been demonstrated in thalassemia patients. Here, we report the first thalassemia patient presenting with nephrotic syndrome to be diagnosed with membranous nephropathy in the literature.     

Growth hormone deficiency in Dubowitz syndrome

Severe short stature as a result of intra-uterine growth retardation is one of the characteristics of Dubowitz syndrome. There have been few reports elaborating growth hormone secretory status in this syndrome. A child with Dubowitz syndrome, who was found to have complete growth hormone (GH) deficiency and who responded to growth hormone therapy, is described. This appears to be the first documentation of GH deficiency in this syndrome.     

Dubowitz syndrome and acute lymphatic leukemia

A child with Dubowitz syndrome at the age of 6 3/4 years developed acute lymphatic leukemia. Despite adequate chemotherapy no remission was achieved. An increased risk of malignancies in patients with Dubowitz syndrome is suggested.     

Moyamoya syndrome in a child with down syndrome

Secondary Moyamoya disease, also known as Moyamoya syndrome has been rarely associated with Down syndrome. In pediatric patients, the usual presentation is that of ischemic stroke. Here is reported a 4-year-old child with Down syndrome and Moyamoya syndrome who presented with acute-onset right hemiplegia. A high index of suspicion is necessary to make the diagnosis.     

The diagnosis of Dubowitz syndrome in the neonatal period — a case report

We present an infant with Dubowitz syndrome diagnosed at birth and followed for 2 years. Presence of the syndrome was suspected at birth on the basis of the anthropometric data and peculiar facial appearance. However, during the follow-up period some changes in the appearance have taken place. It is suggested that the neonatal anthropometric measurements are important diagnostic criteria for Dubowitz syndrome.Abbreviation OFC head circumference