SUMMARY Two male children are reported with similar clinical features, including absent eyelids, eyebrows, eyelashes and hair, fusion defects of the mouth, expressionless facies, rudimentary external ears (but normal hearing), ambiguous genitalia, absent or rudimentary nipples, coarse dry skin with redundant skin folds and delayed expressive language development. The relationship of this syndrome to previously reported cryptophthalmos syndromes is discussed. RÉSUMÉ Macrostomie et ablepharie Les auteurs décrivent les caractéristiques cliniques identiques de deux garçons présentant une absence de paupières, de sourcils, de cils et de cheveux, une fusion défectueuse de la bouche, un faciès sans expression, un développement génital ambigu, des oreilles rudimentaires avec audition normale et un retard du langage oral. La relation de ce syndrome au syndrome cryptophthalmique précédemment rapporté est discutée. ZUSAMMENFASSUNG Ablepharon‐Makrostomie‐Syndrom Es werden zwei männliche Neugeborene beschrieben, die ähnliche klinische Merkmale aufwiesen: fehlende Augenlider, Augenbrauen, Wimpern und Haare, Fusionsdefekte des Mundes, ausdrucksloses Gesicht, Zwittergenitale, rudimentäre Ohren mit normaler Hörfunktion und verzögerte Entwicklung der expressiven Sprache. Es wird über die Zusammenhänge zwischen diesem Syndrom und schon früher beschriebenen cryptoph‐thalmischen Syndromen diskutiert. RESUMEN Sindrome de Ableferon con macrostomia Se presentan dos niños varones con unas caracteristicas clinicas similares incluyendo ausencia de párpados, de cejas, de pestañas y de cabello, defectos de fusión en la boca, falta de expresión en la facies, genitales ambiguos, orejas rudimentarias pero con audición normal y retraso en el desarrollo del lenguaje expresivo. Se discute la relatión de este sindrome con síndromes de criftoftalmia anteriormente aportados.

Four families, each with two individuals affected by Rett Syndrome (RS), were analysed using restriction fragment length polymorphisms and microsatellite markers from the X chromosome. In two of the families, X-linked dominant inheritance of the RS defect from a germinally mosaic mother could be assumed. Therefore, maternal X chromosome markers showing discordant inheritance were used to exclude regions of the X chromosome as locations of the RS gene. Much of the short arm could be excluded, including regions containing three candidate genes, OTC, synapsin 1 and synaptophysin. Although most of the long arm was inherited in common it was possible to exclude a centromeric region. Inheritance of X chromosome markers is also presented for two families with affected aunt-niece pairs, one of which has not been previously studied at the DNA level.

A family with a dominant form of partial GTP cyclohydrolase deficiency is described. Clinical severity varied from mild involvement with complete responsiveness to levodopa to severe dystonia precluding any voluntary activity including talking, progressive contractures, and only partial responsiveness to levodopa. Although there are several possible reasons for intrafamilial variability, any patient with dystonia, the cause of which is not clearly identified, should receive a trial of levodopa. (J Neurol Neurosurg Psychiatry 1999;66:86-89)

HPRT Hypoxanthine-guanine phosphoribosyl transferase LND Lesch-Nyhan disease AIM The aims of this study were to identify all people with Lesch-Nyhan disease (LND) born in the UK between 1988 and 2008, and to obtain a clinical profile including age at diagnosis, genetic background, family history, neurological signs, and medications.METHOD Potential participants were contacted through the British Paediatric Neurology Surveillance Unit. Questionnaires were sent to each child's paediatric neurologist or primary consultant. Two purine laboratories provided metabolic information.RESULTS Twenty-three live males with LND in the 0-to 20-year age band and eight live males over the age of 20 years were identified. Thirty-one live people with LND were identified in the UK in 2008, giving a prevalence of 1 in 2 million people. Over the 20 years of study, there was a mean incidence rate of 0.18 per 100 000 live births, range 0 to 0.5.

SUMMARY Anorectal function was assessed with anorectal manometry in 45 children with spina bifida (21 girls and 24 boys, incan age 11 1/2 years). 24 enuretic children served as conirols. The pressure in the first and second centimetres of the anal canal was lower among index children than controls and also lower among those with high spinal lesions compared with those with low lesions. Rectal activity (rectal sensation and trace appearance) during rectal distension appeared to be reduced among index children; sensation was particularly poor among those with high spinal lesions. Manometry may be useful in children with spina bifida as i t provides a clcarer understanding of sphincter function and leadr {cs a more rational approach to the management of howel problems. RÉSUMÉ Fonction anorectale chez lex enfants a proglemes neurologiques; I: spina bifida La fonction anorcctale a i t e appricibe par manomCirie anorectale chez 45 enfanis spina bifida (21 filles et 24 garqons, d'áge moyn de 11 ans et dcnii). 24 enfanis Cneuritiques servaient de contrbles. Le pression dans le premier et Ic deusierne centimetre du canal anal etait plus basse chez les enfants index que chez les contrdes, et aussi plus basse dans les spina hauts par rapport aus sina bas. L'activit; rectale (sensation rectale et apparence de traces) durant la distension rectale est apparue reduite chez les enfants index; la sensation etait particuliPrement faible pour les spina hauts. La manonmétric peut être utile chez les enfanis spina bifida en fournissant une compréhension plus Claire de la fonction sphinctCrienne et en cotiduisant i une approche plus rationnelle dans Ic traitemcnt des prohlèmes intestinaus. ZUSAMMENFASSUNG Anorektale Funktion bei Kindern mit neurologischen Problemen. 1: Spina bifida Bei 45 Kindern rnit Spina bifida (21 Madchen und 24 Jungen, mittleres Alter 11 1/2 Jahre) wurde die anorektale Funktion durch anorekiale holanometrie untersucht. 23 enuretische Kinder dienten als Kontrollzn. Der Druck im ersten und zweitcn Zentimeter des Analkanals war bei den Index‐Kindern niedriger als bei den Kontrollen und auch bei den Kindern mit hochsitzenden Lasionen niedriger als bei denen mit tiefsitzenden Läsionen. Die Rektumaktivität (Rektuminnervation und Austritt von Stuhlspuren) bei Dehnung des Rektums schien bei den Index‐Kindern reduziert; bei denen mit hochsitzenden Lasionen war die Innervation besonders gering. Die Manometrie kann bci Kindern mit Spina bifida einc hilfreiche Methode sein, da sie zu einem besseren Verstandnis der Sphincter Funktion fuhrt und da dadurch bei der Behandlung von Stuhlproblemen rationaler vorgegangen werden kann. RESUMEN Foncrirón anorcctal err ni˜nos Con problemas neurolopicós. I: EsDina bifida La función anorectal fue evaluada con rnanornetria˜anorecral hn 45 ni˜nos con espina bifida (21 niAas y 24 nirjos, con una edad media de 11 1/2 arios), como controles sirvieron 24 niilos enureticos. La presion en el primer y segundo centimetros del canal anal era mas baja entre los niiros indice quc en los controles y ta...