FETAL SKELETAL

ANOMALY
(Skeletal Dysplasia)
1. Achondroplasia
2. Achondrogenesis
3. Osteogenesis imperfect
4. Thanatophoric dysplasia
 ACHONDROPLASIA

• Hampir semua tulang di dalam tubuh dipengaruhi oleh achondroplasia

• Penampilan normal sampai awal trimester ke-2.
• Temuan sonografi yang paling konsisten adalah pemendekan tulang panjang
antara 21 dan 27 minggu. Temuan tambahan termasuk macrocrania, frontal
bossing, trident-shaped hand.

Dighe M, Fligner C, Cheng E, Warren B, Dubinsky T. Fetal Skeletal Dysplasia: An Approach to

Diagnosis with Illustrative Cases. RadioGraphics 2008; 28:1061–1077.
•Achondroplasia : Tidak
adanya kartilago,
•Bentuk paling umum
dari short-limbed
dwarfism.
•Insidensi 1 dari 26,000
kelahiran hidup
•Etiologi : Mutasi dari
FGFR3

Bianchi DW, Crombleholme TM, D’Alton ME, Malone FD. Fetology:

Diagnosis and Management of Fetal Patient. 2nd [ed]. Copyright ©
2010, 2000 by The McGraw-Hill Companies. ISBN: 978-0-07-
176087-4
Postnatal radiograph of a patient with achondroplasia
demonstrating flattened vertebral bodies with increased
intervertebral space, cupped anterior ends to ribs, and
hypoplastic midfacial bones.

Shortening (<5%) and bowing of the femur in a fetus at 29

weeks of gestation with heterozygous achondroplasia.
 Antenatal facial profile demonstrating
frontal bossing, depressed nasal
bridge, and an elongated philtrum

Prenatal sonogram of fetal hand at 25 weeks of

gestation demonstrating relatively short
phalanges and trident like appearance.
 ACHONDROGENESIS

• Second most common lethal shortlimb dysplasia

• Insidensi achondrogenesis 1 dari 40,000 hingga1
dari 50,000 kelahiran hidup. Achondrogenesis
menyumbang 1 dari 650 kematian perinatal.

Bianchi DW, Crombleholme TM, D’Alton ME, Malone FD. Fetology: Diagnosis and Management of Fetal
Patient. 2nd [ed]. Copyright © 2010, 2000 by The McGraw-Hill Companies. ISBN: 978-0-07-176087-4
 ACHONDROGENESIS

• Suatu Lethal Chondrodystrophy dengan

karakteristik mikromelia ekstrim, short
trunk, kranium besar yang tidak
proporsional.
• Kelainan dari endochondral dan
membranous ossification (kurangnya
osifikasi parsial atau komplit dari
calvarium dan spine, serta pemendekan
tulang panjang yang ekstrim, multiple
rib fractures
 ACHONDROGENESIS

Bianchi DW, Crombleholme TM, D’Alton ME, Malone FD. Fetology: Diagnosis and Management of Fetal Patient. 2nd [ed]. Copyright ©
2010, 2000 by The McGraw-Hill Companies. ISBN: 978-0-07-176087-4
Cited from Bianchi DW et al, 2010.4
Postmortem radiograph of an infant
with achondrogenesis,

type IA, demonstrating the

pathognomonic rib fractures,
unossified spine, short long bones,
arched ilium, and hypoplastic
ischium.

Cited from Bianchi DW et al, 2010.4

Type IB, demonstrating
short ribs, ossified
posterior spine pedicles,
short long bones, crenated
ilium, and unossified
ischium. Note the absence
of rib fractures, in contrast
to type IA seen.

Cited from Bianchi DW et al, 2010.4

Facial profile of the
same fetus demons-
trating flattened
facies and subcuta-
neous edema.
Cited from Bianchi DW et al, 2010.
 OSTEOGENESIS IMPERFECTA

• Merupakan gangguan jaringan ikat yang secara klinis & heterogen genetik,
dimanifestasikan oleh kerapuhan tulang & massa tulang yang rendah.
• Pasien memiliki sklera biru, gangguan pendengaran, gigi yang cacat,
hiperlaxity sendi, dan kecerdasan normal.
• Heterozygous untuk mutasi gen COL1A1 atau COL1A2, yang mengubah
struktur prokolagen tipe I.

Byers PH. Osteogenesis imperfecta. In: Royce PM, Steinman B, eds. Connective tissue and
its heritable disorders. New York, NY: Wiley-Liss, 2002; 317–350.
OSTEOGENESIS IMPERFECTA

Cited from Dighe M, 2008.

Prenatal Sonographic Findings in Osteogenesis Imperfect (listed in order of
detection at earliest gestational age)

Cited from Bianchi DW et al, 2010.

Prenatal sonographic
image of a fetus with
achondrogenesis
demonstrating narrow
thorax, protruberant
abdomen, and absent
rib ossification.

Cited from Bianchi DW et al, 2010.4

Prenatal Sonographic Findings in Osteogenesis Imperfect (listed in order of
detection at earliest gestational age)

Cited from Bianchi DW et al, 2010.

THANATOPHORIC DYSPLASIA
• Thanatophoros, yang berarti
"menanggung kematian (bearing
death."
• Displasia skeletal mematikan yang
paling umum.
• Gambaran klinis klasik termasuk
anggota badan mikromelik, tulang
rusuk pendek, thorax sempit,
macrocephaly relatif, frontal bossing,
hipoplasia midface, penurunan tinggi
vertebral bodies, dan kelainan sistem
saraf pusat.
Cited from Bianchi DW et al, 2010
THANATOPHORIC DYSPLASIA

• Tipe : tipe 1 dan tipe 2.

• Kedua tipe disebabkan oleh
mutasi dari gene-encoding
FGFR3.
• Diwariskan umumnya
autosomal dominant
• Insidensi : 0.27 dari 10,000
hingga 0.4 in 10,000 kelahiran
hidup
Cited from Bianchi DW et al, 2010.
Thanatophoric dysplasia type 1. (a) Transverse US
image shows a normal-shaped but enlarged head. (b)
Sagittal US image shows a depressed nasal bridge
(arrowhead), a prominent forehead (double arrows), and
an undersized thorax (single arrow) compared with the
abdomen. (c) US image shows a telephone receiver–
shaped femur (arrows). Normal limb echogenicity with
severe shortening and bowing of the limbs, a narrow
chest, and macrocephaly suggest thanatophoric
dysplasia type 1
Thanatophoric dysplasia type 1 (d) Postmortem radiograph shows bowed long bones (white
arrows), a narrow chest, and platyspondyly (black arrow). (e, f) Autopsy photographs show
shortened limbs, the depressed nasal bridge (arrowhead in f), a short trunk, an enlarged
abdomen, & prominent forehead (arrows in f)
Thanatophoric dysplasia type 2. (a) Axial US image shows an oversized head with a cloverleaf shape (arrows). (b) Sagittal
US image shows a temporal bulge (arrow). (c) US image shows a “trident” hand. Normal limb echogenicity with severe
shortening, a narrow chest, and an irregular shape of the head suggest thanatophoric dysplasia type 2 according to the
diagrams in Figures 2, 6, and 8, respectively. (d) US image shows a short but relatively straight long bone. (e) Coronal US
image through the abdomen-chest shows a hypoplastic thorax (arrow). (f) Radiograph shows the cloverleaf skull shape
created by the temporal bulge in the skull (arrow).
Thanatophoric dysplasia type 2 (g, h) Postmortem photographs show the prominent forehead; the
typical temporal bulge, resulting in the cloverleaf skull shape (double arrows); and the trident
hand (single arrow in h). Note the bulge in the occipital region, a finding that represents an
occipital encephalocele (an unusual finding in thanatophoric dysplasia).
 TAKE HOME MESSAGES

• Pemeriksaan sonografi sistematis pada skeletal janin tidak

hanya mencakup pengukuran panjang tulang, tetapi juga:
¨ Proporsi bagian tulang;
¨ Skeletal echogenicity ;
¨ Bentuk & posisi;
¨ Volume cairan amnion;
¨ Keseluruhan anatomi janin;
¨ Usia kehamilan pada temuan pertama kali dari kelainan
skeletal
 TAKE HOME MESSAGES

• Skeletal displasia merupakan kelainan tulang rawan dan/atau

pertumbuhan tulang/bentuk dan perkembangannya
• Skeletal displasia diasosiasikan dengan pola pewarisan resesif
autosomal (25%) atau autosomal dominant (50 %).
• Ada ciri-ciri tertentu dari masing-masing kelainan
• Sangat penting menentukan : LETHAL/NON LETHAL