Cases reported "Fetal Growth Retardation"

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1/17. Ultrasonographic prenatal diagnosis of microcephalic osteodysplastic primordial dwarfism types I/III.

    Microcephalic osteodysplastic primordial dwarfism is a rare disease characterized by unique clinical appearance and specific radiographic findings, and distinctive brain abnormalities. We describe the prenatal diagnosis of two siblings with microcephalic osteodysplastic primordial dwarfism types I/III at 23 and 26 weeks of gestation, respectively. Early detection by sequential antenatal sonographic evaluation is important for counselling families known to be at risk of this rare disease.
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2/17. Russell-silver syndrome in a Nigerian infant with intrauterine growth retardation.

    Russell-silver syndrome (RSS) is a rare cause of pre-natal dwarfism, associated with recognizable dysmorphic features and limb asymmetry. The propositus was a term infant of unrelated Nigerian parents, whose 35-year-old mother had peri-conceptual haloperidol for schizophrenia. Anthropometric values suggested severe prenatal stunting in a term infant with asymmetric "head sparing" intrauterine growth retardation (IUGR). A syndromic consideration of Russell-silver dwarfism was subsequently predicated on the distinctive dysmorphic craniofacial features of a triangular facial profile with a broad forehead and hypoplastic mandible, right upper and lower limb rhizomelia, clinodactyly of the little fingers, micro-penis, and (unilateral) cryptochidism. Routine care of a small-for-gestational-age infant was pursued, but postnatal growth remained slow (despite adequate caloric provision) until a parent-pressured discharge at 4 weeks. His subsequent demise was said to have occurred "suddenly" 2 weeks post-discharge. Despite the limitations posed by the local paucity of modern investigative tools for genetic disorders, the current case report underscores the diagnostic reality of RSS in a non-white African population. While emphasizing the need for a high index of diagnostic suspicion for congenital malformations and syndromic causes of IUGR in the African sub-region, we suspect a possible etiologic association of haloperidol embryopathy with RSS in the current case. The characteristic features, differential diagnoses, etiologic postulates/current cytogenetic and molecular genetic findings of RSS are fully reviewed in the discussion.
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3/17. New autosomal recessive chondrodysplasia--pseudohermaphrodism syndrome.

    Two siblings with a previously undescribed syndrome are presented. They both have severe dwarfism, antenatal in origin, with generalized chondrodysplasia, severe microcephaly with cerebellar vermis hypoplasia, a hypoplastic iris and a papillous coloboma (coloboma of the optic disc). The first sibling has a 46,XY karyotype despite normal female internal and external genitalia. She has moderate mental retardation. Gestation of the second sibling was interrupted after antenatal diagnosis. The fetus was 46,XX and very similar to the first case.
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4/17. A case of cleft lip and palate associated with Seckel syndrome.

    OBJECTIVE: We report an unusual association of complete cleft of the primary and secondary palate with Seckel syndrome. Seckel syndrome is a very rare syndrome, with only 60 reported cases in the medical literature. It is an autosomal recessive disorder characterized by birdlike face, intrauterine growth retardation, dwarfism, and microcephaly. This young child of 5 years had a successful cleft lip repair under general anesthesia. The main features of the syndrome and the technical problems of anesthesia and surgery are discussed.
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5/17. Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings.

    A description of the clinical features of Majewski osteodysplastic primordial dwarfism type II (MOPD II) is presented based on 58 affected individuals (27 from the literature and 31 previously unreported cases). The remarkable features of MOPD II are: severe intrauterine growth retardation (IUGR), severe postnatal growth retardation; relatively proportionate head size at birth which progresses to true and disproportionate microcephaly; progressive disproportion of the short stature secondary to shortening of the distal and middle segments of the limbs; a progressive bony dysplasia with metaphyseal changes in the limbs; epiphyseal delay; progressive loose-jointedness with occasional dislocation or subluxation of the knees, radial heads, and hips; unusual facial features including a prominent nose, eyes which appear prominent in infancy and early childhood, ears which are proportionate, mildly dysplastic and usually missing the lobule; a high squeaky voice; abnormally, small, and often dysplastic or missing dentition; a pleasant, outgoing, sociable personality; and autosomal recessive inheritance. Far-sightedness, scoliosis, unusual pigmentation, and truncal obesity often develop with time. Some individuals seem to have increased susceptibility to infections. A number of affected individuals have developed dilation of the CNS arteries variously described as aneurysms and Moya Moya disease. These vascular changes can be life threatening, even in early years because of rupture, CNS hemorrhage, and strokes. There is variability between affected individuals even within the same family.
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6/17. anesthesia for cleft lip surgery in a child with Seckel syndrome--a case report.

    We describe the anesthetic management of a 5-year-old girl diagnosed with Seckel syndrome, for cleft lip surgery. The syndrome is characterized by severe intrauterine and postnatal growth retardation with proportional dwarfism, typical beak-like triangular nose, and mental retardation, accounting for its various synonyms such as bird-headed dwarfism, microcephalic primordial dwarfism, nanocephalic dwarfism and Seckel-type dwarfism.
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7/17. microcephaly, micrognathia, and bird-headed dwarfism: prenatal diagnosis of a Seckel-like syndrome.

    microcephaly, intrauterine growth retardation, a hellenic nose, and severe micrognathia were diagnosed as a form of bird-headed dwarfism (Seckel-like) syndrome in a female infant. In the subsequent pregnancy, monitored by serial ultrasound examinations, severe growth retardation was established at 17 and 20 weeks of pregnancy. The head circumference was disproportionately small in relation to the abdominal circumference and enabled the diagnosis of microcephaly. There was also extreme micrognathia. The pregnancy was terminated, and the diagnosis of a Seckel-like syndrome of bird-headed dwarfism was confirmed at autopsy of the male fetus. This variant of bird-headed dwarfism has probably autosomal recessive inheritance. Ultrasonic assessment of the facial area together with the measurements of fetal head and abdominal circumference are essential in the early prenatal diagnosis of this syndrome in pregnancies of reliably established duration.
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8/17. Microcephalic osteodysplastic dwarfism (type II-like) in siblings.

    We report about two sibs showing a common pattern of birth defects, with a pedigree suggestive of autosomal recessive heredity. The main features are intrauterine growth failure with very low birthweight; disproportionate dwarfism with predominantly distal shortening of limbs; small cubitally inclined clenched hands; microcephaly with Seckel-like facies and delayed psychomotor development. X-ray findings include metaphyseal flare, V-shaped femoral metaphyses and bowing of forearms. Primordial microcephalic osteodysplastic dwarfism Type II is discussed. Metabolic and nutritional data are presented and discussed.
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9/17. Seckel syndrome: an overdiagnosed syndrome.

    Five children in whom a diagnosis of Seckel syndrome had previously been made were re-examined in the genetic unit. One child had classical Seckel syndrome, a sib pair had the features of the syndrome with less severe short stature, and in two children the diagnosis was not confirmed. Seckel syndrome is only one of a group of low birth weight microcephalic dwarfism and careful attention should be paid to fulfillment of the major criteria defined by Seckel before the diagnosis is made. There remains a heterogeneous group of low birth weight microcephalic dwarfism yet to be defined.
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10/17. The short child. A matter of time or cause for concern?

    Short stature is less likely to have an endocrine basis than is commonly thought. Any of a number of chronic systemic diseases can slow growth, short stature may result from a genetic tendency or disorder, growth may be constitutionally delayed, or it may be retarded by intrauterine influences. True endocrine causes include thyroid or adrenal disorder, growth hormone deficiency, and psychosocial dwarfism. Although growth hormone deficiency is quite rare, it has received increased attention recently. The capability to produce human growth hormone by recombinant dna techniques presents the prospect that replacement therapy will be more readily available to those patients who might benefit from it. Caution is called for, however, in making use of this agent for patients other than those with proven growth hormone deficiency.
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