What is Pena-Shokeir syndrome?

Pena-Shokeir syndrome 

Synonyms: Fetal akinesia/hypokinesia sequence, fetal akinesia deformation sequence, arthrogryposis multiplex congenita with pulmonary hypoplasia (Heard of this one).

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Definition: Pena-Shokeir syndrome is an inherited disorder characterized by neurogenic arthrogryposis, facial anomalies, pulmonary hypoplasia and dysmorphic features resulting from fetal akinesia. It was first described by Pena and Shokeir in 1974 and was subsequently included among the phenotypes associated with fetal akinesia deformation sequence.

 

Etiology: Autosomal-recessive is the most common pattern of transmission. Several descriptions of unusual presentations suggest a heterogenic etiology.

 

Recurrence risk: The prediction of the recurrence risk is imprecise due to the multifactorial etiology. In most cases, it varies from 0% to 25%.

 

Incidence: Unknown.

 

Pathophysiology: Active fetal movement starts in mid–first trimester and is of major importance for the normal development of the joints and contiguous tissues. Absent or reduced fetal movement leads to stiff joints, pterygia, and abnormal neuromuscular function with decreased fetal swallowing, which causes pulmonary hypoplasia and polyhydramnios.

 

Diagnosis: The combination of abnormal limb position, restrictive fetal movement with reduced or absent response to acoustic stimulation, growth restriction, polyhydramnios, and pulmonary hypoplasia makes the diagnosis. Low-set malformed ears, hypertelorism, short neck, cleft palate, scalp edema, thoracic deformities, camptodactyly, and micrognathia may also be found. Anomalies less frequently described in association with Pena-Shokeir syndrome include diaphragmatic hernia, gastroschisis, and microcephaly.

 

Differential diagnosis: Trisomy 18 may present features that overlap with Pena-Shokeir syndrome, in particular craniofacial, limb, and intrathoracic abnormalities. Karyotype analysis makes the differential diagnosis. Nonlethal forms of arthrogryposis present the same set of findings, except for the pulmonary hypoplasia.

 

Prognosis: Pena-Shokeir is a lethal condition. A significant number of the affected fetuses are born prematurely. Of those born at term, 30% are stillborn. Among the survivors, the majority die within a few weeks of life. Pulmonary complication is the main cause of death.

 

Management: Termination of pregnancy can be offered before viability. Standard prenatal care should be changed throughout the pregnancy only for maternal indications.

(http://www.thefetus.net/page.php?id=432)

 

Pena-Shokeir I syndrome is characterized by hypertelorism, micrognathia, depressed tip of the nose, low-set deformed ears, hypoplastic dermal ridges, hypoplastic lungs, cryptorchidism, and club feet. They are often stillborn or die within the first year of life.

(http://www.pediatricneuro.com/alfonso/pg158.htm)

AIIMS MAY 2008 : Conditions associated with Telecanthus Q:175 --> The 2 references are saying it as hypertelorism here. 

pgmeenotesby Dr. Dhanesh Vijayan