In the Arab population of Kuwait of approximately 1.3 million, 26 cases in 15 families were ascertained to have Bardet‐Biedl syndrome (20 cases in 13 families) or Laurence‐Moon syndrome (6 cases in 2 families). The apparently increased frequency of these interrelated autosomal recessive syndromes in Arabs is discussed in view of the high consanguinity rate and large family size.,

Complex translocation involvi'ng chromosomes Y, 1,I and 3 resulting in deletion of segment 3q23--*q25The proband was the first child of non-consanguineous parents. He has a younger, phenotypically normal sister. Birth weight was 1-9 kg and he had respiratory distress at birth. Psychomotor development was delayed. His height and weight were on the 3rd centile and his head circumference was below the 3rd centile. He started to walk at 2½1/ years and could say a few words at 3½1/ years. 10 was assessed to be around 75 to 80.The proband had microbrachycephaly, a flat occiput, depressed supraorbital ridges, and flat nasal bridge. Palpebral fissures were narrow and upward slanting. There

A child with a de novo interstitial deletion, 46,XX,del(2)(q3 1q33), is described. Clinical features included psychomotor retardation, hypotonia, microcephaly, hypertelorism, downward slanting palpebral fissures, macrostomia, cleft palate, micrognathia, abnormal ears, overlapping fingers, simian creases, and rocker bottom feet. Partial trisomies and monosomies of chromosome 2 are rare but several cases of balanced rearrangements involving this chromosome have been reported. We report a case of a de novo interstitial deletion of the long arm of chromosome 2 in a 2-year-old girl.

Short reports musculature and a very distended bladder. Ultrasound showed megacystis and bilateral hydronephrosis and an initial diagnosis of prune belly syndrome was made. It was proposed to proceed to bilateral open nephrostomies but the infant developed a cardiac arrhythmia and resuscitation was unsuccessful. She died aged seven hours.Necropsy. The abdominal wall muscle was found to be normal in quantity and structure. On opening the abdomen there was a hugely distended bladder with only a moderately thinned wall, bilateral megaureters, distended renal pelvis with extremely thin walls, and hydronephrosis. The urethra, anal canal, and rectum were patent.Although the duodenum and small intestine were contracted, the stomach was distended with gas, but no obstruction was found at the pylorus or in the duodenum. The small intestine was shortened and both this and the large intestine were empty. The ileocaecal junction lay free in the mid-abdomen. All other systems were grossly normal.Histology of the gastrointestinal and urinary tracts showed normal innervation. Thus, necropsy ruled out mechanical obstruction or absent innervation of the gastrointestinal and urinary tracts. CASE 2Prenatal. Ultrasound examination at 16 weeks confirmed a single viable fetus. Both fetal kidneys were hydronephrotic and the bladder was distended; the fetal stomach also appeared distended with no duodenal fluid observed. Liquor volume was normal. It was felt that this represented a recurrence of the syndrome observed in case 1 and termination was offered and accepted by the parents. This was undertaken the next day by extra-amniotic prostaglandin infusion and resulted in abortion of a female fetus.Necropsy. This showed a female fetus, weight 170 g, with a thin upper abdominal wall. The bladder, stomach, duodenum, and ureters were grossly distended. The urethra, anal canal, and rectum were empty and probe patent from below. There was malfixation and malrotation of the gastrointestinal tract with shortening of the small intestine. Histological examination showed apparently normal innervation of the gastrointestinal and urinary tracts. All other systems were normal.On review of both cases the diagnosis was revised to that of the megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS).Cell Megacystis-microcolon-intestinal hypoperistalsis syndrome: a visceral myopathy. J Pediatr Surg 1983;18:64-9. Correspondence and requests for reprints to Professor R J Lilford,

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