Talaat I. Farag

Consanguinity among the Kuwaiti population

A total of 5,007 Kuwaitis were ascertained to study the incidence of consanguineous marriages during 1983. The rate of consanguineous mating was found to be 54.3% with estimated population incidence rates 52.9 to 55.7%. First cousin marriages were the most frequent type. The average inbreeding coefficient was 0.0219 which could be considered high.

Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population.

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.,

Disease profile of 400 institutionalized mentally retarded patients in Kuwait

Farag TI, Al‐Awadi SA, El‐Badramary MH, Aref MA, Kasrawi B, Krishna Murthy DS, El‐Khalifa MY, Yadav G, Marafie MJ, Bastaki L, Wahba RA, Mohammed FM, Abul Hasan S, Redha AA, Redha MA, Al‐aboud H, Al‐Hijji S, Al‐Dighashem D, Al‐Hashash N, Al‐Jeeryan L, Al‐Khor‐afi H, Qurban EA, Al‐Sulaiman I. Disease profile of 400 institutionalized mentally retarded patients in Kuwait.

Persistent Mullerian duct syndrome: Report of two boys with associated crossed testicular ectopia

Persistent Mullerian duct structures and crossed testicular ectopia were found in two phenotypically normal, unrelated males, with 46,XY karyotype, during routine herniorrhaphy. In each case, the vascular supply to the ectopic testis originated from the appropriate ipsilateral side. The clinical significance and genetic implications of this rare association are discussed.

Ehlers-Danlos syndrome: a new oculo-scoliotic type with associated polyneuropathy?

Two siblings born to consanguineous Bedouin parents and grandparents are reported with the phenotypic features of Ehlers‐Danlos Syndrome (EDS), type VI. In addition, the affected individuals have a polyneuropathy as confirmed by nerve conduction velocity, electromyographic and muscle biopsy studies. We propose that this clinical combination represents a distinct type of EDS.

Discordant, non-syndromic, congenital diaphragmatic defects in sibs.

We report an Arab sibship of two brothers with non-syndromic, congenital diaphragmatic defects (CDD). The first had an extensive, left, Bochdalek-type hernia and the second hemidiaphragmatic agenesis; these were verified by surgical exploration and necropsy respectively. The parents are healthy second cousins. Other reported discordant cases of CDD are briefly reviewed.

The second family with Spahr-type metaphyseal chondrodysplasia: autosomal recessive inheritance confirmed.

Sirs, In 1961, Spahr 62 Spahr-Hartmann reported a family with a new type of metaphyseal chondrodysplasia in four sibs, associated with short stature and bowed legs. The parents were healthy and consanguineous. At least one of the affected sibs required bilateral osteotomy. Three decades later, we report the second family with this syndrome diagnosed and followed up in Kuwait, UK and USA during the last 8 years. The healthy, first-cousin-once-removed Kuwaiti parents have four affected children (one male and three female), four normal children (one male and three female) and a history of a male child who died in infancy of unknown cause. There are no other affected family members up to four generations. The index patient, GHT, was born in June 1970 with no neonatal problems. She showed delayed motor milestones and progressive bowing of her legs. When standing for long period, her knees became painful, and she found difficulty in going upstairs. She showed a characteristic gait and was unable to walk long distances because of severe pain. In 1982, this patient was assessed because of her marked short stature and bowed legs. Her height was 127 cm ( c 3rd centile). Her span was 136 cm and her head circumference was 53.5 cm. Her trunk and upper limbs were proportionate, but the lower limbs were shortened, with marked bilateral genu valgum deformity. She walked with waddling gait. Trendelenbergs test was negative. There was a normal range of movements of both hips, knees and ankles. Metabolic, hormonal and immunolo-

Macrosomia, microphthalmia, +/- cleft palate and early infant death: a new autosomal recessive syndrome.

An Arab girl with macrosomia, severe microphthalmia and early infant death is reported. Four other sibs were similarly affected; three of them had median cleft palate. All five sibs showed respiratory infections in early life and died either unexpectedly or because of a documented overwhelming infection. Parental consanguinity and affected sibs of both sexes strongly suggest autosomal recessive inheritance in this apparently new syndrome.

Monozygotic Twins Concordant for Bardet-Biedl Syndrome and Benign Acanthosis nigricans

Bardet-Biedl syndrome (BBS) is reported in an Arab family with three female siblings, including twins. The twin pair is also concordant for benign acanthosis nigricans, which is considered a helpful m

A Bedouin kindred with 19 piebalds in 5 generations

To the Editor: Autosomal dominant cutaneous hypomelanosis exists in several forms (Der Kaloustian & Kurban 1979, Jackson 1979, Witkop et al. 1978 & 1983, Rook et al. 1986, Luster & Zweibl 1991, Witkop 199 1 , McKusick 1992). Congenital hypopigmented macules occurring in the ventral surfaces of the trunk and face associated with white forelock and normal dorsal pigmentation are the hallmark of hereditary piebaldism (Comings & Odland 1966), which is a known autosomal dominant trait (Cooke 1952). The defect appears to be due to incomplete migration of melanoblasts from the neural crest to their peripheral sites with absent melanocytes and normal Langerhans cells by ultrastructural studies (Breathnach et al. 1965, Grupper et al. 1970). Familial piebaldism (MIM 172800) with informative pedigrees illustrating autosomal dominant inheritance is frequently found (Pierard et al. 1978, Kuster 1987). George Caltin (17961872), painter of the American Indians, painted an affected Mandan Indian. Multiple members of the group were said to have been affected. In 1934, the piebald trait (PBT) was described in a Louisiana black family and the disorder was traced back to a woman born in 1853. A Norwegian family was described in 1939 with many persons showing white forelock with unpigmented macules on the forehead, body and limbs (Sundfor 1939). Comings & Odland (1966) reported the trait in six generations. In South Africa, Selmanowitz et al. (1977) published a pedigree with at least 10 piebalds in four generations. Winship et al. (1991) reported seven piebalds in three generations living in a rural community east of Cape Town. The founder came from the Xhosa tribe. In Kuwait, the first Bedouin kindred with “nonsyndromic” piebaldism affecting29 patien‘ts in five generations was ascertained during a survey of genetic diseases in the Jahra area with 300000 population, mostly (80%) with Bedouin ancestors. A Bedouin family was assessed because of the presence of congenital hypomelanoses and white forelock in three sibs, aged 8, 3 and 1 year respectively (Fig. 1: V-I, 3 and 4) and their father (Fig. 1: IV-1). All showed the PBT: a triangular white forelock with a posterior apex and unpigmented macules showing the characteristic distribution with hypopigmented borders. Hands, feet and back were uninvolved (Fig. 2 and 3). All were assigned as having “nonsyndromic” piebaldism with absence of dystrophia canthorum, iris heterochromia, deafness, mental retardation and short stature. Karyotyping their peripheral blood, with the trypsin Giemsa banding technique, showed normal chromosome constitution. The parents refused skin biopsy for electronmicroscopic studies. Five-generation pedigree analysis (Fig. 1) showed that both sexes transmit and develop the disease (10 females and 9 males) with male-to-male transmission confirming the autosomal dominant mode of inheritance with full penetrance. Different known types of “syndromic” piebaldism were excluded (Arias 1980, Bader et al. 1975, Funderburk & Crandial 1974, Lacassie et al. 1977, Mahakrishna & Scrinivasan 1980, Reed et al. 1967, Telfer et al. 1971, Tietz 1963, Weary & Behlen 1971 and Witkop 1991). Microdeletions of the long arm of chromosome 4 were reported in some piebalds (Funderburk & Crandial 1974, Lacassie et al. 1977, Hoo et al. 1986, Hulten et al. 1987, Yamamato et al. 1989). Further analysis suggested that the PBT locus may be assigned to 4q12 band. Lyon & Searle (1989) pointed out that the