dysencephalia splanchnocystica

Meckel-Gruber syndrome

[mek´el groo´ber] a hereditary autosomal recessive syndrome in which infants are usually born with a sloping forehead, posterior meningoencephalocele, polydactyly (extra fingers or toes), and polycystic kidneys; most die soon after birth. Called also Gruber's syndrome.

dys·en·ce·pha·li·a splanch·no·cys·ti·ca

(dis'en-se-fā'lē-ă splangk'nō-sis'ti-kă), A malformation syndrome, lethal in the perinatal period, and characterized by intrauterine growth retardation, sloping forehead, occipital encephalocele, ocular anomalies, cleft palate, polydactyly, polycystic kidneys, and other malformations; autosomal recessive inheritance. Mapped to human chromosome 17q21-q24. Synonym(s): Meckel syndrome, Meckel-Gruber syndrome

Meckel syndrome

(1) Meckel syndrome type 1 (OMIM:249000)—due to a defect in MKS1.
(2) Meckel syndrome type 2 (OMIM:603194)—due to a defect in TMEM216.
(3) Meckel syndrome type 3 (OMIM:607361)—due to a defect in TMEM67.
(4) Meckel syndrome type 5 (OMIM:61134)—due to a defect in MKS4.
(5) Meckel syndrome type 5 (OMIM:611561)—due to a defect in RPGRIP1L.
(6) Meckel syndrome type 6 (OMIM:612284)—due to a defect in CC2D2A.

Meckel,

Johann Friedrich, the elder, German anatomist and obstetrician, 1714-1774. Meckel band - the portion of the anterior ligament of the malleus that extends from the base of the anterior process through the petrotympanic fissure, to attach to the spine of the sphenoid. Synonym(s): Meckel ligamentMeckel caveMeckel cavity - Synonym(s): Meckel spaceMeckel ganglion - a small parasympathetic ganglion in the upper part of the pterygopalatine fossa. Synonym(s): pterygopalatine ganglionMeckel ligament - Synonym(s): Meckel bandMeckel space - the cleft in the meningeal layer of dura of the middle cranial fossa that encloses the roots of the trigeminal nerve and the trigeminal ganglion. Synonym(s): Meckel cavity; trigeminal caveMeckel sphenopalatine ganglionectomy

Meckel,

Johann Friedrich, the younger, German anatomist and embryologist, 1781-1833. Meckel cartilage - a temporary supporting structure in the embryonic mandible. Synonym(s): mandibular cartilageMeckel diverticulum - the remains of the yolk stalk of the embryo.Meckel-Gruber syndrome - a malformation syndrome. Synonym(s): dysencephalia splanchnocystica; Meckel syndromeMeckel plane - a craniometric plane cutting the alveolar and the auricular points.Meckel scan - use of technetium-99m pertechnetate in a scan of the gastric mucosa to detect ectopic gastric mucosa in Meckel diverticulum.Meckel syndrome - Synonym(s): Meckel-Gruber syndrome

单词	dysencephalia splanchnocystica
释义	EncyclopediaSeeJohann Friedrich Meckel dysencephalia splanchnocystica Meckel-Gruber syndrome [mek´el groo´ber] a hereditary autosomal recessive syndrome in which infants are usually born with a sloping forehead, posterior meningoencephalocele, polydactyly (extra fingers or toes), and polycystic kidneys; most die soon after birth. Called also Gruber's syndrome. dys·en·ce·pha·li·a splanch·no·cys·ti·ca (dis'en-se-fā'lē-ă splangk'nō-sis'ti-kă), A malformation syndrome, lethal in the perinatal period, and characterized by intrauterine growth retardation, sloping forehead, occipital encephalocele, ocular anomalies, cleft palate, polydactyly, polycystic kidneys, and other malformations; autosomal recessive inheritance. Mapped to human chromosome 17q21-q24. Synonym(s): Meckel syndrome, Meckel-Gruber syndrome Meckel syndrome (1) Meckel syndrome type 1 (OMIM:249000)—due to a defect in MKS1. (2) Meckel syndrome type 2 (OMIM:603194)—due to a defect in TMEM216. (3) Meckel syndrome type 3 (OMIM:607361)—due to a defect in TMEM67. (4) Meckel syndrome type 5 (OMIM:61134)—due to a defect in MKS4. (5) Meckel syndrome type 5 (OMIM:611561)—due to a defect in RPGRIP1L. (6) Meckel syndrome type 6 (OMIM:612284)—due to a defect in CC2D2A. Meckel, Johann Friedrich, the elder, German anatomist and obstetrician, 1714-1774. Meckel band - the portion of the anterior ligament of the malleus that extends from the base of the anterior process through the petrotympanic fissure, to attach to the spine of the sphenoid. Synonym(s): Meckel ligamentMeckel caveMeckel cavity - Synonym(s): Meckel spaceMeckel ganglion - a small parasympathetic ganglion in the upper part of the pterygopalatine fossa. Synonym(s): pterygopalatine ganglionMeckel ligament - Synonym(s): Meckel bandMeckel space - the cleft in the meningeal layer of dura of the middle cranial fossa that encloses the roots of the trigeminal nerve and the trigeminal ganglion. Synonym(s): Meckel cavity; trigeminal caveMeckel sphenopalatine ganglionectomy Meckel, Johann Friedrich, the younger, German anatomist and embryologist, 1781-1833. Meckel cartilage - a temporary supporting structure in the embryonic mandible. Synonym(s): mandibular cartilageMeckel diverticulum - the remains of the yolk stalk of the embryo.Meckel-Gruber syndrome - a malformation syndrome. Synonym(s): dysencephalia splanchnocystica; Meckel syndromeMeckel plane - a craniometric plane cutting the alveolar and the auricular points.Meckel scan - use of technetium-99m pertechnetate in a scan of the gastric mucosa to detect ectopic gastric mucosa in Meckel diverticulum.Meckel syndrome - Synonym(s): Meckel-Gruber syndrome
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