Background and aim

Jeune syndrome is rare recessive autosomal osteochondrodysplasia firstdescribed in 1954. Main features of Jeune syndrome are narrow thorax, shortribs, short limbs and hypoplastic pelvic bones. Additionally one can seekidney, liver and pancreas failure.

Materials and methods

Three cases of constrictive chest dysplasia with different clinicalmanifestations (from mild respiratory disorders and good survival prognosisto death in the first hours of life) are described.

Results

The first child was born in 34th week of gestation and died in 7thhour of life in course of the respiratory insufficiency. Autopsy has shownthat hypoplastic lungs due to decreased cage rib volume was cause ofdeath.

The second newborn – mature delivered – had signs of graduallyincreasing respiratory insufficiency requiring mechanical ventilation insecond week of life and afterwards. We have also observed renalinsufficiency — typical additional feature of constrictive chest dysplasia.Child has died in 3rd moth of life due to pneumonia.

The third newborn was born in 36th week of gestation. Dominant clinicalfeature — respiratory insufficiency requiring mechanical ventilation havebeen seen for the first 2 weeks of life only. Abdominal ultrasound has shownfibrosis of liver hilus — another typical clinical feature of constrictive chestdysplasia.

Conclusions

In all presented cases we observed similar set of features of Jeunesyndrome. Different prognosis was highly dependent on exacerbation ofrespiratory insufficiency — the most prominent trait of the disease.

doi:10.1016/j.earlhumdev.2008.09.331

Abstract UENPS.316Early manifestations of morquio syndrome in neonatal period.Case report

Irene Loukatou⁎, Charalambia Spanoudaki, Christos Costalos,Olga Vrentzou, Nerantzia BakirtziHospital Alexandras, Athens, Greece

Background and aim

Morquio syndrome is a member of a group of inherited metabolicdisorders termed mucopolysaccharidosis. The accumulation of a partiallydegraded GAGs leeds to compromising of cell and organ function.

Materials and methods

Description of a full term male neonate with bilateral hydrothorax andascites at birth.

Results

In order to establish the diagnosis of the neonate with persistenthepatomegaly, severe hypotony and poor developmental and motor status,we did a further lab tests such us urine test for MPSs which was positive.

Conclusions

The case is described because of the rarity of confirming the diagnosis ofMorquio syndrome in the neonatal period.

doi:10.1016/j.earlhumdev.2008.09.332

Abstract UENPS.317Tuberous sclerosis-early diagnosis in neonatal period. Case report

Irene Loukatou, Charalambia Spanoudaki⁎, George Papadopoulos,Christos Costalos, Niki Tarla, Sophia MarioliHospital Alexandras, Athens, Greece

Background and aim

Tuberous sclerosis is a type of neurocutaneous disorders that arecharacterized by different degrees of neoplasmatic exhalation that concernslesions of central nervous system, skin and internal organs.

Materials and methods

Description of a preterm male infant with a 2/6 systolic murmur over theprecardium which was detected the third day of life.

Results

In order to establish the diagnosis the infant underwent the followingtests: Heart Ultrasound, Skin test with Wood lamp and Brain CT and MRI.

Conclusions

The case is described because of the rarity of confirming the diagnosis oftuberous sclerosis in the neonatal period.

doi:10.1016/j.earlhumdev.2008.09.333

Abstract UENPS.318Colodión baby. Importance on early management

Tristacho María Solo de Zaldivar⁎, Juan Manuel Nuñez Solís,Francisco Jiménez Parrilla, Carlos Tutau Gómez, Eva Ximénez Verresen,Fernando Ferreira Pérez, Diego Aspiazu Salinas, Antonio Losada MartínezVirgen Del Rocio, Seville, Spain

Background and aim

Introduction: Ichthyosis is part of a group of genodermatosis character-ized by hyperkeratosis and epidermis desquamation. There are differentclinical manifestations being difficult to establish the correlation betweengenotype and phenotype. These are rare diseases with an incidence rangingfrom 1:30,000 born to 1:300,000. Some of the icthiosic presentationsmanifest themselves as a severe form in the newborn, collodion baby andharlequin ichthyosis, are peculiar entities due to their spectacular clinicalaspect, being harlequin fetus the most severe congenital ichthyosis with thelower survival rate at 12 months. Collodion baby's morbidity is also high andhis prognosis is not well defined. Clinical manifestations includes newbornscovered with a hyperkeratosic, bright and fissured membrane that cause thedevelopment of joint contractures; ectropion, eclabion (“fish lips”) and earsmalformation. This dysfunction of the skin begins prenatally and compro-mises the defensive barrier of the skin by increasing the risk ofhidroelectrolitic disturbances and infections.

Materials and methods

We describe the case of a newborn with a severe lamellar ichthyosisadmitted at the neonatal intensive care unit. We describe complication'streatment, skin care and the follow up of different specialties as well as it'slong-term monitoring.

Results

The patient initially presented dehydration, kidney failure and septice-mia. Clinic evolution was successful due to an early and appropriate treat-ment. Skin care treatment was introduced from the first day of life and hasbeen followed up by dermatology.

AbstractsS128