Sizes of abdominal organs in adults with severe short stature due to severe, untreated, congenital GH deficiency caused by a homozygous mutation in the GHRH receptor gene.

OBJECTIVE: To assess the sizes of intra-abdominal organs of adult subjects with untreated severe congenital isolated GH deficiency (IGHD) due to lack of functional GHRH receptor (GHRH-R), and to verify whether there is proportionality between size of organ and adult stature and body surface area (BSA). SUBJECTS AND METHODS: By using ultrasound, we studied the sizes (absolute and corrected by height, weight and BSA) of the intra-abdominal organs of 18 adult subjects with IGHD (eight females, IGHD group) who have never received GH replacement therapy. They were all homozygous for the same null mutation (IVS1 + 1G --> A) in the GHRH receptor gene (GHRH-R). They were compared with normal controls from the same region. RESULTS: After correction for BSA, subjects lacking a functional GHRH-R have normal prostate and ovaries size, small spleen and uterus, and large liver, pancreas and kidney. CONCLUSIONS: Size of individual abdominal organs is influenced in different ways by severe and congenital lack of GH due to a GHRH-R mutation.

Multiple congenital anomalies syndrome: growth and mental retardation, microcephaly, preauricular skin tags, cleft palate, camptodactyly, and distal limb anomalies. Report on two unrelated Brazilian patients.

We report on 2 unrelated Brazilian patients, born to non-consanguineous parents, both with multiple anomalies including growth and mental retardation, microcephaly, telecanthus, cleft palate, preauricular skin tags/pit, camptodactyly, and foot anomalies. To our knowledge, this is a previously undescribed formal genesis syndrome. Clinical and genetic aspects are discussed.

A syndrome of hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion.

Three unrelated Puerto Rican boys, ranging in age from 3 to 4 years, had marked, central, non-progressive hypotonia, chronic constipation, severe psychomotor retardation, seizures or abnormal electroencephalograph or both, abnormal dermatoglyphics, delayed bone age, dysharmonic skeletal maturation, and preponderance and larger size of type 2 muscle fibres. Additional findings included narrow, high arched palate, prominent nasal root, long philtrum, distended abdomen, and drooling from open mouth. Two of the three patients also had undescended testes, hypertelorism, and tapered fingers. Birth weight, postnatal physical growth, and head size were average. Family and gestational histories and laboratory evaluations were normal. The combination of features observed in the three boys appears to be distinct and to represent a new syndrome.

Manifestaçöes buco-faciais observadas na Síndrome de Seckel: relato clínico de um caso / Orofacial manifestations observed in Seckel's Sindrom: clinical report of one case

O presente trabalho relata as condiçöes físicas e sistêmicas de um paciente portador da Síndrome de Seckel. Analisa os dados gerais e bucais do mesmo incluindo dentes e gengiva. Esta condiçäo desnutricional gera o aparecimento facial semelhante a uma águia ou pássaro. No presente caso, a problemática periodontal näo é täo intensa. Modificaçöes dentais podem ser detectadas. Pequena altura, aspecto franzino e estrutura corporal deficientes säo as anotaçöes verificadas neste paciente

Ophthalmologic findings in the Cornelia de Lange syndrome.

Cornelia de Lange Syndrome (CDLS) is characterized by mental retardation, growth retardation, skeletal anomalies, and a characteristic facies. We examined 22 children with CDLS to ascertain the relative frequencies of oculofacial and ophthalmologic abnormalities. We confirm prior reports of the frequent findings of brow hypertrichosis, synophrys, and long arcuate eyelashes. In addition we documented the association with ptosis, nystagmus, and high myopia. Contrary to previous reports, we did not find blue sclera or corneal, pupillary, or retinal disorders to be part of this syndrome. Hypertelorism and telecanthus were found, but they were dependent on the method of calculation. Two children had optic nerve pallor. We also report the new findings of poor macular reflex, chin lifts induced by ptosis, hypertropia, and nasolacrimal duct fistula.

Hemihipertrofia corporal: informe de dos casos / Corporal hemihyperthrophy: report of 2 cases

Se presentan dos casos, uno de hemihipertrofia corporal asociado a enfermedad de Thiemann y el otro una hemihipertrofia facial. Se revisa la literatura de hemihipertrofia de la enfermedad de Thiemann. Destacamos la importancia del primer caso, por que creemos que es el primero en la literatura mundial

Macrodactyly, hemihypertrophy, and connective tissue nevi: report of a new syndrome and review of the literature.

Macrodactyly and hemihypertrophy have been described in association with a number of syndromes which are reviewed. We describe a child who, in addition to macrodactyly and hemihypertrophy, has extensive connective tissue nevi. He does not conform to any known entity and would appear to represent a "new" syndrome.