RESUMO
Seckel syndrome is an infrequent autosomic recessive genetic disorder. It is characterized by short stature, mental retardation and a typical facies. Nearly 10 families have been reported with two or more affected members. This paper reports two sisters, daughters of non-related parents. The mother presented bilateral fissurate lip. The main traits of this syndrome are highlighted through a literature review.
El síndrome de Seckel es una enfermedad genética de herencia autosómica recesiva de baja ocurrencia, caracterizado por la asociación de talla baja, retardo mental y facies especial, se han reportado cerca de 10 familias con dos o más miembros afectados. Nosotros reportamos dos hermanas hijas de padres no consanguíneas, la madre presenta labio fisurado bilateral. Se describen las características más importantes del síndrome y se hace una revisión de la literatura.
Assuntos
Humanos , Feminino , Recém-Nascido , Anormalidades Múltiplas/genética , Nanismo/genética , Microcefalia/genética , Padrões de Herança , SíndromeRESUMO
Four case records of patients with Seckel Syndrome (SS) were retrieved. Typical of bird headed dwarfism was seen in all. Chromosome 18 deletion was seen in one child with SS. MRI abnormalities were detected in 3 patients. Cytogenetic studies and neuroimaging is likely to provide important diagnostic and prognostic information.
Assuntos
Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Pré-Escolar , Deleção Cromossômica , Cromossomos Humanos Par 18 , Anormalidades Craniofaciais/genética , Anormalidades Craniofaciais/patologia , Nanismo/genética , Nanismo/patologia , Feminino , Humanos , Lactente , Deficiência Intelectual/genética , Deficiência Intelectual/patologia , Masculino , Microcefalia/genética , Microcefalia/patologia , SíndromeRESUMO
Seckel syndrome is an autosomal recessive, primordial dwarfism. The clinical symptoms and signs include severe intrauterine and postnatal growth retardation, nanocephaly, proportional dwarfism, bird-like faces, beak-like triangular nose, and mental retardation. We report a successful anesthetic management including endotracheal intubation with the GlideScope(R) video laryngoscope in an 18-year old man with Seckel syndrome for curettage of chronic osteomyelitis of pelvic bone.
Assuntos
Humanos , Curetagem , Nanismo , Deficiência Intelectual , Intubação Intratraqueal , Laringoscópios , Nariz , Osteomielite , Ossos PélvicosRESUMO
Seckel syndrome, also called bird-headed dwarfism, is an extremely rare, inherited, autosomal recessive disorder. The patients with Seckel syndrome are characterized by growth retardation, microcephaly with mental retardation, proportional dwarfism, bird like faces, and beak-like triangular nose. A literature review reveals that they have multiple anesthetic problems such as difficult airway management, difficult venous cannulation and concomitant medical diseases. We describe our experience in anesthetic management of a 21-month-old male patient with Seckel syndrome associated with pneumonia who underwent orchiopexy for bilateral cryptochidism.
Assuntos
Humanos , Lactente , Masculino , Manuseio das Vias Aéreas , Aves , Cateterismo , Nanismo , Deficiência Intelectual , Microcefalia , Nariz , Orquidopexia , PneumoniaRESUMO
Seckel syndrome is a rare autosomal recessive disorder characterized by low birth weight, short but proportionate stature, microcephaly, moderate to severe mental retardation and typical facial features mimicking bird including receding forehead and chin, a prominent beaked nose and large eyes. A number of CNS anomalies have been reported in literature that are mental retardation, seizures, pachygyria, arachnoid cysts, large basal ganglia, agenesis of corpus callosum, hypoplasia of cerebellar vermis and cerebral aneurysms. Our patient had seizures, microcephaly, mental retardation and CNS anomalies, including diffuse cerebral dysgenesis, pachygyria and partial agenesis of corpus callosum. We report a case of Seckel syndrome with CNS anomalies and a follow up visit at 5 years later
Assuntos
Animais , Humanos , Recém-Nascido , Agenesia do Corpo Caloso , Cistos Aracnóideos , Gânglios da Base , Bico , Aves , Queixo , Olho , Seguimentos , Testa , Recém-Nascido de Baixo Peso , Deficiência Intelectual , Aneurisma Intracraniano , Lisencefalia , Malformações do Desenvolvimento Cortical , Microcefalia , Nariz , ConvulsõesRESUMO
Seckel syndrome is a rare autosomal recessive disease. The characteristic features of Seckel syndrome include Intrauterine and postnatal growth deficiency, severe microcephaly, and a bird-like head. General appearance of our patient was characterized by Pre- and postnatal growth retardation, microcephaly, large eye, and a beaked nose. The patient had mental retardation with CNS anomalies. The CNS anomalies seen in the patient included cerebral dysgenesis and cerebellar atrophy. So, we report the case of CNS anomalies in Seckel syndrome.
Assuntos
Animais , Humanos , Atrofia , Bico , Cabeça , Deficiência Intelectual , Microcefalia , NarizRESUMO
Seckel syndrome is a rare, autosomal recessive disorder of severe growth retardation and distinct craniofacial, orodental, and skeletal anomalies. We report hereby the first two Korean cases of typical Seckel syndrome who had characteristic symptoms of intrauterine growth retardation, small head, large eyes, sharp facial features (beaked nose, dysplastic ears and narrow face) with underdeveloped chin, dwarfism, severe mental retardation, and other malformation. We report two cases of Seckel syndrome with a brief review of related literatures.