The microcephaly-capillary malformation syndrome

Pulmonary Capillary Leak Syndrome

Capillary malformation-arteriovenous malformation syndrome: a report of 2 cases, diagnostic criteria, and management.

Capillary malformation-arteriovenous malformation syndrome is a rare type of vascular malformation first described in 2003. It is an autosomal dominant inherited disorder that has been reported in association with heterozygous mutations in the RASA1 gene, which encodes the protein RASp21. The clinical picture is characterized by multiple small capillary malformations which are associated with e...

Syndromic anorectal malformation associated with Holt–Oram syndrome, microcephaly, and bilateral corneal opacity: a case report

BACKGROUND The occurrence of an anorectal malformation with Holt-Oram syndrome, microcephaly, and bilateral corneal opacity is rare and to the best of our knowledge has not previously been reported in the literature. Hence, there is a need to document our experience in this case and learn as much as possible from it. CASE PRESENTATION We present the case of a Nigerian female neonate with a po...

Microcephaly, malformation of brain development and intracranial calcification in sibs: pseudo-TORCH or a new syndrome.

We report on five sibs affected by congenital microcephaly, growth retardation, sloping forehead, bitemporal grooving and micrognathia. Generalized tonic-clonic seizures started very early in life. Postnatal brain computerized tomography (CT) presented cortical band-like calcification, calcification of basal ganglia and brain stem while brain magnetic resonance imaging (MRI) revealed abnormal g...

KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation.

Hyperkeratotic capillary-venous malformations (HCCVMs) are rare cutaneous lesions that occur in a small subgroup of patients with cerebral capillary malformation (CCM). CCMs cause neurological problems that range from headaches to life-threatening intracranial bleeding. CCMs and HCCVMs have a similar histopathological appearance of dilated capillary-venous channels. Genetic linkage of inherited...