Developmental Disorders of the Lymphatics

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Thursday, February 09, 2012

Neu-Laxova syndrome

Keywords and Terms: Neu-Laxova syndrome, microcephaly, ocular hypertelorism, craniofacial, autosomal recessive, lymphedema, edema, autopsy, Dandy-Walker Malformation, hepatomegaly, transposition of great vessels, IUGR, ichthyosis, Ultrasonography, Cerebellar hypoplasia, Cerebro-osseous-digital syndrome, lethal skeletal dysplasia, lymphatic dysplasia, limb contractures, ocular proptosis, edematous fetus.


Genetic disorder inherited as an autosomal recessive trait.

Risk Factors

Though it is believed to be genetic, researchers have attempted to isolate specific markers such as consanguinity and history of intrauterine death or stillbirth in siblings to help in the prenatal diagnosis of Neu-Laxova Syndrome.


Can be diagnosed through the use of sonography.

“The ultrasonographic may include receding forehead, hypertelorism, cataract, severe ectropion, proptosis, prominent eyes, malformed ears, flat nose, micrognathia, severe microcephaly, lissencephaly, dysgenesis of the corpus callosum, hypoplasia of the cerebellum, Dandy-Walker anomaly, choroid plexus cysts, unilateral renal agenesis, abnormal external genitalia (curved penis, cryptorchidism), hypoechoic skeletal structures, kyphosis, contractures of limbs, swelling and webbing of the knee and elbow joints, and severe edema of the hands and feet, giving the impression of absent digits, edema, polyhydramnios, intrauterine growth retardation and feeble fetal.” (1)

Differential diagnosis:

Lissencephaly, cerebrooculofacioskeletal syndrome, arthrogryposis.


Severe growth delays before birth (intrauterine growth retardation); low birth weight and length; and distinctive abnormalities of the head and facial (craniofacial) region, marked smallness of the head (microcephaly), sloping of the forehead, widely spaced eyes (ocular hypertelorism), generalized edema, Yellow subcutaneous tissue, Syndactyly of fingers, Syndactyly of toes Puffy hands, Puffy feet, Persistent embryonic eye structures, Absent eyelashes, Absent head hair, Underdeveloped genitals, Polyhydramnios, Short umbilical cord, Small placenta..

Also, permanent flexion and immobilization of multiple joints (flexion contractures); other limb malformations; and/or abnormalities of the brain,skin, genitals, kidneys, and/or heart.


Neu-Laxova is universally fatal. There is no known treatment or preventative measures that can be done.


Neu-Laxova syndrome is fatal. Affected individuals are usually stillborn or die within six months of birth.


Rare manifestations of Neu-laxova syndrome.

Feb 2012

Badakali M, Badakali A, Dombale V. Source Department of Obstetrics and Gynecology, S.N. Medical College and Research Centre, Bagalkot, India.


Keywords Neu-Laxova syndrome, growth retardation, autopsy, Dandy-Walker malformation, hepatomegaly, transposition of great vessels

Neu-Laxova syndrome is a rare lethal congenital disorder involving multiple systems. Intrauterine growth retardation, ichthyosis, microcephaly, abnormal facial findings and limb contractures are its key features. We present a stillborn female baby of 1.5 kg with characteristic features including growth retardation, microcephaly, severe ectropion, micrognathia, flattened nose, eclabion, large ears, puffy hands and feet. In addition to these features, lissencephaly, severely hypoplastic cerebrum and corpus callossum, Dandy-Walker malformation, Transposition of Great Vessels and hepatomegaly were noted at autopsy. The patient was born at 38 weeks of gestation to consanguineous (second degree) Indian parents. The mother was 26 year old second gravida with lack of prenatal followup. Therefore, the condition was diagnosed postnatally. Because of the autosomal recessive inheritence of Neu-Laxova syndrome, in countries with high rates of consanguineous marriage, serial prenatal ultrasound examinations with genetic counseling should be performed on pregnant women at high risk to offer termination of affected pregnancies.


Neu-Laxova syndrome: a prenatal diagnosis.

Oct 2011

Dhillon P, Bofill JA.


Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of Mississippi Medical Center, Jackson. 39216, USA.


Neu-Laxova syndrome is a rare autosomal recessive congenital disorder. Prenatal diagnosis is possible via second trimester ultrasonography. Characteristic ultrasound findings include hydramnios, severe intrauterine growth restriction, craniofacial and CNS anomalies, limb contractures, skin lymphedema, skin restrictions, and akinesia. Fewer than 70 cases have been reported, and no survival beyond six months of age is known with most neonatal deaths occurring within the first few days of life. Overall, this is a lethal condition after birth secondary to severe lung hypoplasia and brain anomalies. Herein we report a recent case from our institution with prenatal diagnosis.


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