Megalencephaly-Capillary Malformation Case Study

By dates, the patient is 35 5/7 weeks and the measurements are concordant. The amniotic fluid volume is normal. The fetus is in cephalic presentation. The BPP and Doppler studies are reassuring. A complete fetal anatomical survey was performed and no major malformations were noted at this time within the resolution of the ultrasound equipment other than the fetal abdomen. There is a cystic structure seen in the fetal abdomen that is about 3 cm in diameter with some echolucency surrounding this. It is below the kidney but above the fetal bladder as identified in your office.

Chiari malformation is defined as a series of malformations of the cerebellum and the skull. This is the result of many things, one is theorized to be premature births of infants.There are many other possible causes for this.Another is Hydrocephalus, or “water on the brain”, which is in reality an excess of cerebrospinal fluid, CSF around the skull. The history of this dates back to 1891, an Austrian pathologists by the name of Hans Chiari found a malformation of the brain. Doctor Chiari found the types I,III,and IV. He characterized the definition of the disorder as “ A series of malformations of the cerebellum/hindbrain and skull”. Years later, one of Chiari’s students Julius Arnold, expanded on the ideas Chiari had found. Chiari is named for both Hans Chiari and Julius Arnold.

On today’s evaluation, she is 19 weeks and the fetal measurements overall are concordant. The long bone measurements are within one week of her dates. The amniotic fluid volume is normal, and the cervix is long and closed. A complete fetal anatomical survey was performed and a significant amount of ventriculomegaly/hydrocephalous was identified but no other major malformations were noted at this time, though due to the

Epignathus is a congenital teratoid tumor that protrudes through the mouth. It is rare and often fatal. It originates from the Rathke pouch (pharynx and or bones of the base of the skull) and hard palate. It can occupy the entire oropharyngeal cavity and externalize through the mouth. Depending on the size, Epignathus can cause asphyxia and severe obstructive respiratory insufficiency in the neonate, usually fatal. Prenatal diagnosis can be performed by prenatal ultrasonography and magnetic resonance imaging. With this, it is possible to plan the delivery in the best possible way, with a multidisciplinary team to provide specialized care and allow the beginning of the treatment of the neonate still in the delivery room with a view to the survival

This syndrome is from a mutation of a gene on chromosome 15 and this causes problems in the production of fibrillin-1 which is a protein that is an important part of connective tissue. The name for the gene is FBN1. Basically, it is the “glue” that helps to support the tissues in the human body. A child born to a parent with this syndrome has a 50% of having it. However, in the remaining 25%, neither parent has the disease which gives them a 1 in 10,000 chance of having a child with this disorder. When a child of two unaffected parents is born with it then the genetic mutation occurs in either the egg or sperm cell at the time of conception.

The purpose of this paper is to discuss the effects of the disorder and how genetics and biochemistry work together to create this

Med. Genet 2009. 46, 825–833; Cardoso, C., Leventer, R.J., Ward, H.L., Toyo-Oka, K., Chung, J., Gross, A., Martin, C.L., Allanson, J., Pilz, D.T., Olney, A.H., et al. (2003). Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Am. J. Hum. Genet. 72, 918–930). MDS is caused by a heterozygous deletion of chromosome 17p13.3, involving several genes including PAFH1B1 and YWHAE coding for LIS1 and 14-3-3 proteins, respectively. This deletion induces malformations during cortical development (Dobyns, W.B., Stratton, R.F., Parke, J.T., Greenberg, F., Nussbaum, R.L., and Ledbetter, D.H. (1983). Miller-Dieker syndrome: Lissencephaly and monosomy 17p. J. Pedod. 102, 552–558; Chong, S.S., Pack, S.D., Roschke, A.V., Tanigami, A., Carrozzo, R., Smith, A.C.M., Dobyns, W.B., and Ledbetter, D.H. (1997). A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. Hum.

CHARGE syndrome is a rare genetic disorder that manifests itself in 1 in 10,000 newborns. The syndrome is characterized by complex yet identifiable clinical features including Coloboma- which involves a cleft in one of the structures of the eye, heart defects, choanal atresia- a narrowing or blockage of the nasal cavity, retardation of growth and development, genitourinary malformation and various ear abnormalities (Kim et al., 2014). Although these malformations are associated with CHARGE syndrome, the specific pattern and severity of symptoms varies among diagnosed individuals (Hsu et al., 2014).

“When he was two, if you laid him on his stomach, he began to try to move himself, straining terribly. The doctor said that this was a congenital heart defect that they would do everything

A three year-old boy was born with facial deformities as the result of a prenatal complication. He was born with a hole in his face, which was where his nose was supposed to be. He was also born without an upper jaw and eyes. The little boy, whose name is Yahya, was shielded from other people by his parents.

difficult to work with because each case is different, and the course of this disease is

Outline the causes, incidence and risk factors of the identified condition and how it can impact on the patient and family

This presentation does not enable or encourage the instructor to make judgments or diagnoses; that is the work of a professional in the

The disorder is a syndrome that is found in newborns and children that consisted of osteoporosis with fractures and skeletal deformities (Mccance & Huether, 2014). Its classification is based on both inheritance and clinical findings. In the most severe form of this disorder, the child is usually stillborn or dies soon after birth, but some may survive into childhood. In its more severe forms the signs and symptoms are evident at birth because fractures and deformity have occurred in utero. The less severe forms may be evident until the child starts to walk. Clinical manifestations of this disease are osteoporosis and increased rate of fractures, possible bony deformation, triangular faces, possible vascular weakness, possible blue sclera, and poor dentition (McCance & Huether, 2014). The main errors in this disease is due to the synthesis of collagen, a triple helix that contains two matching alpha chains and one beta chain. Collagen is mostly present in bone, cartilage, eye tissue, skin, and the vascular system. The severity of this disorder phenotype along the related anomalies are primarily dependent on the severity of the genetic anomaly and the part of the triple helix that is affected (Greeley, et al., 2013). Moreover,

Only 5 cases were reported which limits study evidence. More number of cases should be observed to confirm the conclusion.