We present a case of a 5-month-old girl who presented with macrocephaly, developmental delay, and failure to thrive. [pediatricneurosciences.com]

We also present a review of the literature about this entity. [jmedicalcasereports.biomedcentral.com]

Genotype-phenotype correlations: Given the rarity of the condition in published literature, genotype-phenotype correlations are presently unknown. [fdna.health]

These patients present distinctive craniofacial features and skeletal abnormalities in addition to multiple lateral meningoceles, suggesting a connective tissue disorder. [ncbi.nlm.nih.gov]

Lateral meningocele syndrome is inherited in an autosomal dominant manner Lateral meningocele syndrome, also known as Lehman syndrome,[2] is a very rare skeletal disorder with facial anomalies, hypotonia and meningocele-related neurologic dysfunction.[3] Presentation [en.wikipedia.org]

• Spindle-shaped Fingers

  However, patients with Nevo syndrome typically show flexion contractures of edematous hands and feet, wrist drop, and “spindle-shaped” fingers.[11] Surgical excision is recommended for symptomatic lesions, particularly when there are neurological deficits [pediatricneurosciences.com]

• Nasal Voice

  Additional variable features are connective tissue abnormalities, aortic dilation, a high-pitched nasal voice, wormian bones and osteolysis. [malacards.org]

  Patients may also have hyperextensibility, hernias, scoliosis and aortic dilation, a high-pitched nasal voice, wormian bones and osteolysis. [exeterlaboratory.com]

  Hyperextensibility, hernias and scoliosis reflect a connective tissue abnormality, and aortic dilation, a high-pitched nasal voice, wormian bones and osteolysis may be present. [ncbi.nlm.nih.gov]

• High Arched Palate

  Dysmorphic features include dolichocephaly, hypertelorism, ptosis, microretrognathia, high-arched palate, long, flat philtrum, and low-set ears. [malacards.org]

  arched palate long flat philtrum low set ears Non facial features of this syndrome include hyperextensibility hypotonia lateral meningoceles The lateral meningoceles are a common finding in this syndrome. [handwiki.org]

  Symptoms - Lateral meningocele syndrome * Generalized osteosclerosis * Multiple thoracic meningoceles * Multiple lateral meningoeles * Downslanting eye slits * High arched palate * Underdeveloped jaw * Underdeveloped facial bones * Large sella turcica [checkorphan.org]

  arched palate long flat philtrum low set ears Non facial features of this syndrome include hyperextensibility hypotonia lateral meningoceles bladder dysfunction and neuropathy The lateral meningoceles are a common finding in this syndrome. [en.wikipedia.org]

• Tooth Loss

  Features in adulthood included chronic headaches, occipital neuralgia, occasional nocturnal limb movements, Raynaud’s phenomenon, dysphagia, gastroesophageal reflux disease, uterine prolapse, vaginal dryness, dry mouth and eyes, and early tooth loss. [fdna.health]

• Dolichocephaly

  Dysmorphic features include dolichocephaly, hypertelorism, ptosis, microretrognathia, high-arched palate, long, flat philtrum, and low-set ears. [malacards.org]

  […] inherited in an autosomal dominant manner The lateral meningocele syndrome is a very rare skeletal disorder with facial anomalies, hypotonia and meningocele-related neurologic dysfunction.[2] Presentation Facial features found in this syndrome include dolichocephaly [handwiki.org]

  […] manner Lateral meningocele syndrome, also known as Lehman syndrome,[2] is a very rare skeletal disorder with facial anomalies, hypotonia and meningocele-related neurologic dysfunction.[3] Presentation[edit] Facial features found in this syndrome include dolichocephaly [en.wikipedia.org]

  Showing of 59 | 80%-99% of people have these symptoms Atresia of the external auditory canal Absent ear canal 0000413 Conductive hearing impairment Conductive deafness Conductive hearing loss [ more ] 0000405 Dolichocephaly Long, narrow head Tall and [rarediseases.info.nih.gov]

• Low Set Ears

  Dysmorphic features include dolichocephaly, hypertelorism, ptosis, microretrognathia, high-arched palate, long, flat philtrum, and low-set ears. [malacards.org]

  Facial features include midface hypoplasia, downslanting palpebral fissures, hypertelorism, ptosis, low-set ears, malar hypoplasia, a high narrow palate, micrognatnia and cleft palate. read more [ctgt.net]

  Facial features of LMS include hypertelorism and telecanthus, high arched eyebrows, ptosis, midfacial hypoplasia, micrognathia, high and narrow palate, low-set ears and a hypotonic appearance. [exeterlaboratory.com]

• Hearing Impairment

  Showing of 59 | 80%-99% of people have these symptoms Atresia of the external auditory canal Absent ear canal 0000413 Conductive hearing impairment Conductive deafness Conductive hearing loss [ more ] 0000405 Dolichocephaly Long, narrow head Tall and [rarediseases.info.nih.gov]

  He was diagnosed with moderate bilateral conductive hearing impairment; hearing aids were prescribed. He has left amblyopia. Cardiac status has been stable. [ashg.org]

• Hypertelorism

  Dysmorphic features include dolichocephaly, hypertelorism, ptosis, microretrognathia, high-arched palate, long, flat philtrum, and low-set ears. [malacards.org]

  Facial features include midface hypoplasia, downslanting palpebral fissures, hypertelorism, ptosis, low-set ears, malar hypoplasia, a high narrow palate, micrognatnia and cleft palate. read more [ctgt.net]

  Facial features of LMS include hypertelorism and telecanthus, high arched eyebrows, ptosis, midfacial hypoplasia, micrognathia, high and narrow palate, low-set ears and a hypotonic appearance. [exeterlaboratory.com]

• Neonatal Hypotonia

  A further three unrelated individuals were described by Gripp et al. [1997] expanding the phenotype to include neonatal hypotonia, congenital heart defect (ventricular septal defect, aberrant right subclavian artery, interrupted inferior vena cava, aortic [fdna.health]

  Overlap with features of connective tissue disorders include neonatal hypotonia (11/14), abdominal hernias (9/14), ligamentous laxity (12/14), keloid scars (5/14), and back pain (3/14) in later life. [ncbi.nlm.nih.gov]

• Vaginal Dryness

  Features in adulthood included chronic headaches, occipital neuralgia, occasional nocturnal limb movements, Raynaud’s phenomenon, dysphagia, gastroesophageal reflux disease, uterine prolapse, vaginal dryness, dry mouth and eyes, and early tooth loss. [fdna.health]

She began to experience severe apnea during sleep, which upon multidisciplinary workup was determined to be due to velopharyngeal and oropharyngeal collapse on inspiration, likely unrelated to her intact palatal repair, and was treated with supplemental [thejns.org]

• Enlarged Sella

  Radiologic assessment revealed skeletal sclerosis, most prominent in the calvarium, scoliosis, enlarged sella turcica, platybasia, cerebellar hypoplasia, and multiple meningoceles. Intellect was normal. [fdna.health]

  One had a hypoplastic posterior archof the atlas and an enlarged sella, as re-ported by Lehman et al. [1977]. Our patientsappear to have the same syndrome as previ-ously reported. [documents.tips]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Treatment and prognosis Symptomatic treatment for lateral meningoceles may require surgical intervention for large lesions. History and etymology Lateral meningocele syndrome was first described in 1977 by Lehman et al 4. [radiopaedia.org]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

We discuss the treatment options and present a brief review of the literature. [omicsonline.org]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

The prognosis is good in general. I considered it a win compared to some if the other syndromes she could have had... Definitely Google Lateral Meningocele Syndrome. [rareshare.org]

Treatment and prognosis Symptomatic treatment for lateral meningoceles may require surgical intervention for large lesions. History and etymology Lateral meningocele syndrome was first described in 1977 by Lehman et al 4. [radiopaedia.org]

Prognosis - Lateral meningocele syndrome Not supplied. Treatment - Lateral meningocele syndrome Not supplied. Resources - Lateral meningocele syndrome Not supplied. [checkorphan.org]

In addition to the reported incidence, congenital ASM and dorsal lumbosacral meningocele differ from one another with respect to their pathogenesis, presentation, prognosis for neurologic improvement, and surgical approaches. [clinicalgate.com]

Lateral meningocele syndrome is a rare disorder of unknown etiology, first described in 1977 and subsequently reported in nine other patients. [ncbi.nlm.nih.gov]

[…] interstitial and granulonodulo alveolar pattern 324 Interstitialreticular pulmonary pattern 326 Disseminated interstitial pneumonitis 327 The miliary pattern of pneumonia 328 Short linear andor wedgeshaped densities 329 Pulmonary edema in infancy and childhood Etiology [books.google.com]

Although the precise event is not clearly defined, evidence for a vascular etiology exists. 14, 18, 19 In addition to anomalies of the conus medullaris, sacral nerve roots, and sacral dura mater, the clinical manifestations of these patterns of maldevelopment [clinicalgate.com]

Hospitals, Mumbai, Maharashtra, India, Poonam Darade 2 Department of Radiology, Grant Government Medical College and Sir JJ Group of Hospitals, Mumbai, Maharashtra, India › Author Affiliations Abstract Lateral meningocele is rare disorder of unknown etiology [thieme-connect.com]

As there was no central etiology identified for this new obstructive sleep apnea, further decompression was not recommended as treatment. [thejns.org]

Microscopic evaluation can show ganglion cells and glial nodules as an extension from the central canal that may also be contained within the sac. 3 23.1 Pathophysiology The pathophysiology of meningoceles depends upon the location and position within [neupsykey.com]

Prevention - Lateral meningocele syndrome Not supplied. [checkorphan.org]

To perform this procedure, an 8-Fr Foley catheter was inserted into the ostomy of the distal colon and the balloon was inflated with 2 ml of air just beneath the skin surface to prevent leakage. [appliedradiology.com]

Treatment Repair of a posterior meningocele is usually recommended at the time of presentation to prevent subsequent tethering, infection, growth of the sac, and CSF leak. [neupsykey.com]

Antisense oligonucleotides targeting Notch3 and antibodies that prevent the activation of NOTCH3 are being tested in preclinical models of the di...Continue Reading References Feb 28, 1978·Pediatric Radiology·S G KatzR D Strand Jan 1, 1977·The Journal [meta.org]

An awareness of the condition and radiologic proof of its existence will prevent this error. [neurosurgery.tv]